Gene list

Search by:

Disease	Acronym	Disease-OMIM	Gene	Gene Synonym	Gene-OMIM	Method	Filter 1 A-Z	Filter 2 Group
ABCD syndrome	ABCDS, albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness	600501	EDNRB		131244	SEQ, MLPA, NGS	A	Syndro
Abetalipoproteinemia	Acanthocytosis, Bassen-Kornzweig-syndrome	200100	MTTP	MTP	157147	SEQ, NGS	A	Neuro
Achondrogenesis type 2	ACG2	200610	COL2A1		120140	SEQ, MLPA, NGS	A	Tissue
Achondroplasia	ACH	100800	FGFR3		134934	SEQ, MLPA, NGS	A	Tissue
Acro-dermato-ungual-lacrimal-tooth syndrome	ADULT syndrome	103285	TP63	p63, TP73L	603273	SEQ, NGS	A	Syndro
Acrodysostosis type 1, with or without hormone resistance	ACRDYS1	101800	PRKAR1A		188830	SEQ, MLPA, NGS	A	Tissue
Acrodysostosis type 2, with or without hormone resistance	ACRDYS2	614613	PDE4D		600129	SEQ, NGS	A	Tissue
Acromesomelic dysplasia, Hunter-Thompson type	AMDH	201250	GDF5		601146	SEQ, NGS	A	Tissue
ACTH-independent macronodular adrenal hyperplasia	AIMAH1	219080	GNAS somatic mutations		139320	SEQ, MLPA, NGS	A	Kidney
ACTH-independent macronodular adrenal hyperplasia	AIMAH1	219080	GNAS somatic mutations		139320	SEQ, MLPA, NGS	A	Tumor
Adenosine triphosphate, elevated, of erythrocytes	pyruvate kinase hyperactivity	102900	PKLR		609712	SEQ, MLPA, NGS	A	Meta
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency		201910	CYP21A2		613815	SEQ, MLPA, NGS	A	Meta
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	3-beta-HSD deficiency, HSDB	201810	HSD3B2		613890	SEQ, NGS	A	Meta
AEC syndrome, Hay-Wells syndrome		106260	TP63	p63, TP73L	603273	SEQ, NGS	A	Syndro
Age-related macular degeneration 4	ARMD4	610698	CFH p.Y402H	HF	134370	SEQ	A	Sensory
Age-related macular degeneration 8	ARMD8	613778	ARMS2 p.A69S	LOC387715	611313	SEQ	A	Sensory
Aicardi-Goutieres syndrome type 1	AGS1	225750	TREX1		606609	SEQ, MLPA, NGS	A	Syndro
Aicardi-Goutieres syndrome type 5	AGS5	612952	SAMHD1		606754	SEQ, MLPA, NGS	A	Syndro
Albinism, oculocutaneous, type 1A	OCA1A, tyrosinase-negative OCA1	203100	TYR null mutation		606933	SEQ, MLPA, NGS	A	Meta
Albinism, oculocutaneous, type 1B	OCA1B, tyrosinase-positive OCA1	606952	TYR hypomorphic mutation		606933	SEQ, MLPA, NGS	A	Meta
Albinism, oculocutaneous, type 2	OCA2	203200	OCA2	P gene, pink-eyed dilution	611409	SEQ, MLPA, NGS	A	Meta
Albinism, oculocutaneous, type 3	OCA3	203290	TYRP1		115501	SEQ, NGS	A	Meta
Albinism, oculocutaneous, type 4	OCA4	606574	SLC45A2	MATP	606202	SEQ, NGS	A	Meta
Albinism, oculocutaneous, type 6	OCA6	113750	SLC24A5		609802	SEQ, NGS	A	Meta
Albinism, oculocutaneous, type 7	OCA7	615179	C10ORF11		614537	SEQ, NGS	A	Meta
Albright hereditary osteodystrophy, Pseudohypoparathyroidism type Ia	PHP1A	103580	GNAS		139320	SEQ, MLPA, NGS	A	Tissue
Alexander disease		203450	GFAP		137780	SEQ, NGS	A	Neuro
Alpha-1-antitrypsin deficiency	A1ATD	613490	SERPINA1, exons 3 and 5		107400	SEQ, MLPA	A	Meta
Alpha-thalassemia/mental retardation syndrome, X-linked	ATRX	301040	ATRX		300032	SEQ, MLPA, NGS	A	Syndro
Alport syndrome 1, X-linked	ATS1	301050	COL4A5		303630	SEQ, MLPA, NGS	A	Kidney
Alport syndrome 1, X-linked	ATS1	301050	COL4A5		303630	SEQ, MLPA, NGS	A	Syndro
Alport syndrome 2, autosomal recessive	ATS2	203780	COL4A3		120070	SEQ, MLPA, NGS	A	Kidney
Alport syndrome 2, autosomal recessive	ATS2	203780	COL4A4		120131	SEQ, MLPA, NGS	A	Syndro
Alport syndrome 3, autosomal dominant	ATS3	104200	COL4A3		120070	SEQ, MLPA, NGS	A	Kidney
Alport syndrome 3, autosomal dominant	ATS3	104200	COL4A3		120070	SEQ, MLPA, NGS	A	Syndro
Alternating hemiplegia of childhood 1	AHC1	104290	ATP1A2		182340	SEQ, MLPA, NGS	A	Neuro
Alternating hemiplegia of childhood 2	AHC2	614820	ATP1A3		182350	SEQ, MLPA, NGS	A	Neuro
Alzheimer disease type 1, familial	AD	104300	APP		104760	SEQ, MLPA, NGS	A	Neuro
Alzheimer disease type 2, familial	AD2	104310	APOE E2/E3/E4-Allele		107741	SEQ	A	Neuro
Alzheimer disease type 3, familial	DAT	607822	PSEN1		104311	SEQ, MLPA, NGS	A	Neuro
Alzheimer disease type 4, familial	DAT	606889	PSEN2		600759	SEQ, MLPA, NGS	A	Neuro
AMP deaminase deficiency	Myoadenylat deaminase deficiency	615511	AMPD1		102770	SEQ, NGS	A	Neuro
Amyloidosis, hereditary, transthyretin-related	Amyloid polyneuropathy	105210	TTR		176300	SEQ, NGS	A	Meta
Amyotrophic lateral sclerosis type 1	ALS1	105400	SOD1		147450	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 10	ALS10	612069	TARDBP	TDP43	605078	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 11	ALS11	612577	FIG4		609390	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 14, with or without frontotemporal dementia	ALS14	613954	VCP		601023	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 2, juvenile	ALS2	205100	ALS2	KIAA1563	606352	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 4, juvenile	ALS4	602433	SETX		608465	SEQ, MLPA, NGS	A	Neuro
Amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia	ALS6	608030	FUS		137070	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 8	ALS8	608627	VAPB		605704	SEQ, NGS	A	Neuro
Amyotrophic lateral sclerosis type 9	ALS9	611895	ANG		105850	SEQ, NGS	A	Neuro
Andersen-Tawil syndrome	ATS, LQT7, periodic paralysis + ventricular arrhythmias + distinctive dysmorphic facial or skeletal features	170390	KCNJ2		600681	SEQ, MLPA, NGS	A	Cardio
Androgen insensitivity	AIS	300068	AR		313700	SEQ, MLPA, NGS	A	Meta
Androgen insensitivity, partial, with or without breast cancer	PAIS	312300	AR		313700	SEQ, MLPA, NGS	A	Meta
Angioedema, hereditary, type III	HAE3	610618	F12		610619	SEQ, MLPA, NGS	A	Meta
Angioedema, hereditary, types I and II	HAE1, HAE2	106100	SERPING1	C1NH	606860	SEQ, MLPA, NGS	A	Meta
Aniridia	AN1, congenital cataract with late-onset corneal-dystrophy	106210	PAX6		607108	SEQ, MLPA, NGS	A	Sensory
Anophthalmia / Microphthalmia, syndromic	SOX2-related eye disorders	206900	SOX2		184429	SEQ, MLPA, NGS	A	Syndro
Anterior segment dysgenesis, type 3	ASGD3	601631	FOXC1		601090	SEQ, MLPA, NGS	A	Sensory
Anterior segment dysgenesis, type 4	ASGD4	137600	PITX2		601542	SEQ, MLPA, NGS	A	Sensory
Anterior segment dysgenesis, type 5	ASGD5	604229	PAX6		607108	SEQ, MLPA, NGS	A	Sensory
Apert syndrome	Acrocephalosyndactyly type 1	101200	FGFR2		176943	SEQ, MLPA, NGS	A	Syndro
Aphasia, primary progressive	PPA	607485	GRN	PGRN	138945	SEQ, MLPA, NGS	A	Neuro
Apolipoprotein B100, familial ligand-defective	Hypercholesterolemia, familial, 2, FCHL2	144010	APOB p.R3527Q [R3500Q], p.R3558C [R3531C]		107730	SEQ	A	Meta
Argininemia	Arginase deficiency	207800	ARG1		608313	SEQ, NGS	A	Meta
Argininemia	Arginase deficiency	207800	ARG1		608313	SEQ, NGS	A	Path
Argininosuccinase deficiency	Argininosuccinic aciduria	207900	ASL		608310	SEQ, NGS	A	Path
Argininosuccinase deficiency	Argininosuccinic aciduria	207900	ASL		608310	SEQ, NGS	A	Meta
Aromatic L-amino acid decarboxylase deficiency	AADCD, dopa decarboxylase deficiency	608643	DDC	AADC	107930	SEQ, NGS	A	Neuro
Arthrogryposis multiplex congenita, distal type 1	AMCD1	108120	TPM2		190990	SEQ, NGS	A	Syndro
Arts syndrome	ARTS	301835	PRPS1		311850	SEQ, NGS	A	Syndro
Association with statin-induced side effects			SLCO1B1*5 Genetic Variant	c.521T>C, p.V174A	604843	SEQ	A	Pharma
Ataxia teleangiectasia	Louis-Bar-syndrome	208900	ATM		607585	SEQ, MLPA, NGS	A	Neuro
Ataxia teleangiectasia	Louis-Bar syndrome	208900	ATM		607585	SEQ, MLPA, NGS	A	Tumor
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AOA1	208920	APTX		606350	SEQ, MLPA, NGS	A	Neuro
Atrial fibrillation, familial, 4	ATFB4	611493	KCNE2		603796	SEQ, MLPA, NGS	A	Cardio
Attenuated familial adenomatous polyposis	AFAP	175100	APC		611731	SEQ, MLPA, NGS	A	Tumor
Attenuated familial adenomatous polyposis	AFAP	175100	MUTYH		604933	SEQ, MLPA, NGS	A	Tumor
Atypical Gaucher disease due to saposin C deficiency		610539	PSAP		176801	SEQ, NGS	A	Meta
Atypical Krabbe disease due to saposin A deficiency	Saposin A deficiency	611722	PSAP		176801	SEQ, NGS	A	Meta
Axenfeld-Rieger syndrome type 1	RIEG1	180500	PITX2		601542	SEQ, MLPA, NGS	A	Sensory
Axenfeld-Rieger syndrome type 3	RIEG3	602482	FOXC1		601090	SEQ, MLPA, NGS	A	Sensory
Bannayan-Riley-Ruvalcaba syndrome	BBRS	158350	PTEN		601728	SEQ, MLPA, NGS	B	Tumor
Basal cell nevus syndrome	BCNS, Gorlin-Goltz syndrome	109400	PTCH1		601309	SEQ, MLPA, NGS	B	Tumor
Basal cell nevus syndrome	BCNS, Gorlin-Goltz syndrome	109400	PTCH2		603673	SEQ, NGS	B	Tumor
Basal cell nevus syndrome	BCNS, Gorlin-Goltz syndrome	109400	SUFU		607035	SEQ, MLPA, NGS	B	Tumor
Basal ganglia calcification, idiopathic, 7, autosomal recessive	IBGC7	618317	MYORG		618255	SEQ, NGS	B	Neuro
Basal ganglia calcification, idiopathic, type 1, Fahr disease	IBGC1	213600	SLC20A2		158378	SEQ, NGS	B	Neuro
Basal ganglia calcification, idiopathic, type 4, Fahr disease	IBGC4	615007	PDGFRB		173410	SEQ, NGS	B	Neuro
Basal ganglia calcification, idiopathic, type 5, Fahr disease	IBGC5	615483	PDGFB		190040	SEQ, NGS	B	Neuro
Basal ganglia calcification, idiopathic, type 6, Fahr disease	IBGC6	616413	XPR1		605237	SEQ, NGS	B	Neuro
Beare-Stevenson syndrome	BSTVS	123790	FGFR2		176943	SEQ, MLPA, NGS	B	Syndro
Becker muscular dystrophy	BMD	300376	DMD		300377	SEQ, MLPA, NGS	B	Neuro
Beckwith-Wiedemann syndrome	BWS	130650	CDKN1C	KIP2	600856	SEQ, MLPA, NGS	B	Syndro
Benign familial infantile seizures, type 2	BFIE2	605751	PRRT2		614386	SEQ, MLPA, NGS	B	Epi
Benign hereditary Chorea	BHC	118700	NKX2-1		600635	SEQ, MLPA, NGS	B	Neuro
Bestrophinopathy, autosomal recessive	ARB	611809	BEST1		607854	SEQ, MLPA, NGS	B	Sensory
Bietti crystalline corneoretinal dystrophy	BCD	210370	CYP4V2		608614	SEQ, NGS	B	Sensory
Birt-Hogg-Dubé syndrome	BHD	135150	FLCN		607273	SEQ, MLPA, NGS	B	Neuro
Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2	BPES	110100	FOXL2		605597	SEQ, MLPA, NGS	B	Syndro
Blood group-Lutheran inhibitor, dominant LU(a-b-) phenotype	INLU	111150	KLF1		600599	SEQ, NGS	B	Coagul
Borjeson-Forssman-Lehmann syndrome	BFLS	301900	PHF6		300414	SEQ, MLPA, NGS	B	Syndro
Boucher-Neuhauser-syndrome	BNHS	215470	PNPLA6		603197	SEQ, NGS	B	Neuro
Brachydactyly, type A1	Farabee brachydactyly	112500	IHH		600726	SEQ, NGS	B	Tissue
Brachydactyly, type C	BDC, Haws type	113100	GDF5		601146	SEQ, NGS	B	Tissue
Brachydactyly, type D	BDD	113200	HOXD13		142989	SEQ, MLPA, NGS	B	Tissue
Brachydactyly, type E	BDE1	113300	HOXD13		142989	SEQ, MLPA, NGS	B	Tissue
Brachydactyly, type E2	BDE2	613382	PTHLH		168470	SEQ, NGS	B	Tissue
Brachydactyly-syndactyly syndrome	Zhao type, BDSD	610713	HOXD13		142989	SEQ, MLPA, NGS	B	Tissue
Brachyolmia type 3		113500	TRPV4		605427	SEQ, NGS	B	Tissue
Breast cancer, susceptibility		114480	PALB2	FANCN	610355	SEQ, MLPA, NGS	B	Tumor
Brugada syndrome type 1	BRGDA1, Right bundle branch block, ST segment elevation, sudden death	601144	SCN5A		600163	SEQ, MLPA, NGS	B	Cardio
Brugada syndrome type 2	BRGDA2	611777	GPD1L		611778	SEQ, NGS	B	Cardio
Brugada syndrome type 3	BRGDA3	611875	CACNA1C		114205	SEQ, NGS	B	Cardio
Brugada syndrome type 4	BRGDA4	611876	CACNB2		600003	SEQ, NGS	B	Cardio
Brugada syndrome type 5	BRGDA5	612838	SCN1B		600235	SEQ, NGS	B	Cardio
Brugada syndrome type 6	BRGDA6	613119	KCNE3		604433	SEQ, NGS	B	Cardio
Brugada syndrome type 7	BRGDA7	613120	SCN3B		608214	SEQ, NGS	B	Cardio
Brugada syndrome type 8	BRGDA8	613123	HCN4		605206	SEQ, NGS	B	Cardio
Brugada syndrome type 9	BRGDA9	616399	KCND3		605411	SEQ, NGS	B	Cardio
Campomelic dysplasia	CMPD	114290	SOX9		608160	SEQ, MLPA, NGS	C	Syndro
Campomelic dysplasia with autosomal sex reversal	CMPD	114290	SOX9		608160	SEQ, MLPA, NGS	C	Syndro
Camptodactyly, tall stature and hearing loss	CATSHL syndrome	610474	FGFR3 mutation p.Arg621His		134934	SEQ	C	Syndro
Camurati-Engelmann disease		131300	TGFB1		190180	SEQ, NGS	C	Tissue
Carbamoylphosphate synthetase I deficiency	CPS1 deficiency	237300	CPS1		608307	SEQ, NGS	C	Meta
Carbamoylphosphate synthetase I deficiency	CPS1 deficiency	237300	CPS1		608307	SEQ, NGS	C	Path
Cardiofaciocutaneous syndrome 1	CFC1	115150	BRAF		164757	SEQ, NGS	C	Syndro
Cardiofaciocutaneous syndrome 2	CFC2	615278	KRAS		190070	SEQ, NGS	C	Syndro
Cardiomyopathy, dilated, 1A	CMD1A	115200	LMNA		150330	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated, 1D	CMD1D	601494	TNNT2		191045	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated, 1E	CMD1E	601154	SCN5A		600163	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated, 1FF	CMD1FF	613286	TNNI3		191044	SEQ, NGS	C	Cardio
Cardiomyopathy, dilated, 1MM	CMD1MM	615396	MYBPC3		600958	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated, 1S	CMD1S	613426	MYH7		160760	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated,1GG	CMD1GG	613642	SDHA		600857	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated,1U	CMD1U	613694	PSEN1		104311	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated,1V	CMD1V	613697	PSEN2		600759	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, dilated,1Y	CMD1Y	611878	TPM1		191010	SEQ, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic	CMH	192600	CAV3		601253	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 1	CMH1	192600	MYH7		160760	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 10	CMH10	608758	MYL2		160781	SEQ, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 2	CMH2	115195	TNNT2		191045	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 3	CMH3	115196	TPM1		191010	SEQ, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 4	CMH4	115197	MYBPC3		600958	SEQ, MLPA, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 7	CMH7	613690	TNNI3		191044	SEQ, NGS	C	Cardio
Cardiomyopathy, familial hypertrophic 8	CMH8	608751	MYL3		160790	SEQ, NGS	C	Cardio
Carney complex, type 1	CNC1	160980	PRKAR1A		188830	SEQ, MLPA, NGS	C	Tumor
Catecholaminergic polymorphic ventricular tachycardia-3	CPVT3	614021	TECRL		617242	SEQ, NGS	C	Cardio
Catecholaminergic polymorphic ventricular tachycardia-6	CPVT6	618782	CALM3		114183	SEQ, NGS	C	Cardio
Celiac disease, susceptibility		212750	HLA-DQA1 and-DQB1, analysis of risk-alleles encoding HLA-DQ2 and -DQ8 only		146880, 604305	SEQ	C	Meta
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss	CAPOS-syndrome	601338	ATP1A3		182350	SEQ, MLPA, NGS	C	Neuro
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1	CAMRQ1	224050	VLDLR		192977	SEQ, MLPA, NGS	C	Neuro
Cerebeller ataxia, mental retardation and dysequilibrium syndrome 3	CAMRQ3	613227	CA8		114815	SEQ, NGS	C	Neuro
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	CADASIL1	125310	NOTCH3		600276	SEQ, MLPA, NGS	C	Neuro
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	CADASIL2	616779	HTRA1		602194	SEQ, NGS	C	Neuro
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy	CARASIL , Maeda syndrome	600142	HTRA1		602194	SEQ, NGS	C	Neuro
Cerebrooculofacioskeletal syndrome type 1	COFS1, Pena-Shokeir syndrome type 2	214150	ERCC6		609413	SEQ, NGS	C	Syndro
Cerebrooculofacioskeletal syndrome type 2	COFS2	610756	ERCC2		126340	SEQ, NGS	C	Syndro
Cerebrooculofacioskeletal syndrome type 3	COFS3	616570	ERCC5		133530	SEQ, NGS	C	Syndro
Ceroid lipofuscinosis, neuronal, 2	CLN2, Jansky-Bielschowsky disease, late infantile form included	204500	TPP1		607998	SEQ, MLPA, NGS	C	Meta
Ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	CLN4A, adult onset, Kufs type	204300	CLN6		606725	SEQ, MLPA, NGS	C	Meta
Ceroid lipofuscinosis, neuronal, 6	CLN6, late infantile, variant	601780	CLN6		606725	SEQ, MLPA, NGS	C	Meta
Ceroid-Lipofuscinose, neuronal, Typ 1	CLN1, infantile Santavuori-Haltia disease included	256730	PPT1		600722	SEQ, MLPA, NGS	C	Meta
Charcot-Marie-Tooth neuropathy type 1A	CMT1A, HMSN1A	118220	PMP22		601097	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 1B	CMT1B, HMSN1B	118200	MPZ	P0	159440	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 1C	CMT1C, HMSN1C	601098	LITAF		603795	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 1D	CMT1D, HMSN1D	607678	EGR2		129010	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 1E	CMT1E, HMSN1E	118300	PMP22		601097	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 1F	CMT1F, HMSN1F	607734	NEFL	NF68	162280	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2A2	CMT2A2, HMSN2A2	609260	MFN2		608507	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2B	CMT2B, HMSN2B	600882	RAB7A		602298	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2B1	CMT2B1, HMSN2B1	605588	LMNA		150330	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2C	CMT2C, HMSN2C	606071	TRPV4		605427	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2D	CMT2D, HMSN2D	601472	GARS1	GARS	600287	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2E	CMT2E, HMSN2E	607684	NEFL	NF68	162280	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2I	CMT2I, HMSN2I	607677	MPZ	P0	159440	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2J	CMT2J, HMSN2J	607736	MPZ	P0	159440	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 2Y	CMT2Y	616687	VCP		601023	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 4A	CMT4A	214400	GDAP1		606598	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 4B1	CMT4B1	601382	MTMR2		603557	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type 4J	CMT4J	611228	FIG4		609390	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type X	CMTX, HMSNX	302800	GJB1	Connexin 32	304040	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy type X5	Rosenberg-Chutorian-syndrome, CMTX5	311070	PRPS1		311850	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, axonal, type 2F	CMT2F	606595	HSPB1		602195	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, axonal, type 2K	CMT2K	607831	GDAP1		606598	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, axonal, type 2L	CMT2L	608673	HSPB8		608014	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, axonal, type 2M	CMT2M	606482	DNM2		602378	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, axonal, type 2N	CMT2N	613287	AARS		601065	SEQ, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis		607706	GDAP1		606598	SEQ, MLPA, NGS	C	Neuro
Charcot-Marie-Tooth neuropathy, dominant intermediate, type B	CMTDIB	606482	DNM2		602378	SEQ, NGS	C	Neuro
Chediak-Higashi syndrome	CHS	214500	LYST	CHS1	606897	SEQ, NGS	C	Syndro
Cherubism	CRBM	118400	SH3BP2		602104	SEQ, NGS	C	Syndro
Chilblain lupus type 1	CHBL1	610448	TREX1		606609	SEQ, MLPA, NGS	C	Geno
Chilblain lupus type 2	CHBL2	614415	SAMHD1		606754	SEQ, MLPA, NGS	C	Geno
Cholelithiasis, low phospholipid-associated	LPAC, Gallbladder disease 1	600803	ABCB4		171060	SEQ, MLPA, NGS	C	Meta
Cholestasis, benign recurrent intrahepatic, type 1	BRIC1, Summerskill syndrome	243300	ATP8B1		602397	SEQ, NGS	C	Meta
Cholestasis, benign recurrent intrahepatic, type 2	BRIC2	605479	ABCB11		603201	SEQ, NGS	C	Meta
Cholestasis, intrahepatic, of pregnancy, 1	ICP1	147480	ATP8B1		602397	SEQ, NGS	C	Meta
Cholestasis, intrahepatic, of pregnancy, 3	ICP3	614972	ABCB4		171060	SEQ, MLPA, NGS	C	Meta
Cholestasis, progressive familial intrahepatic, type 1	PFIC1, Byler Disease	211600	ATP8B1		602397	SEQ, NGS	C	Meta
Cholestasis, progressive familial intrahepatic, type 2	PFIC2	601847	ABCB11		603201	SEQ, NGS	C	Meta
Cholestasis, progressive familial intrahepatic, type 3	PFIC3	602347	ABCB4		171060	SEQ, MLPA, NGS	C	Meta
Chondrodysplasia, Blomstrand type		215045	PTH1R		168468	SEQ, NGS	C	Tissue
Chondrodysplasia, Grebe type		200700	GDF5		601146	SEQ, NGS	C	Tissue
Choreoacanthocytosis	Neuroacanthocytosis, Levine-Critchley syndrome	200150	VPS13A		605978	SEQ, NGS	C	Neuro
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	CAHTP, brain-lung-thyroid syndrome	610978	NKX2-1		600635	SEQ, MLPA, NGS	C	Neuro
Choroidal dystrophy, central areolar, type 2	CACD	613105	PRPH2		179605	SEQ, MLPA, NGS	C	Sensory
Chronic progressive external ophthalmoplegia type 2	CPEO2, PEOA2 progressive external ophthalmoplegia 2	609283	SLC25A4	ANT1	103220	SEQ, MLPA, NGS	C	Neuro
Chronic progressive external ophthalmoplegia type 3,	CPEO3, progressive external ophthalmoplegia 3, PEOA3	609286	TWNK	C10ORF2, TWINKLE	606075	SEQ, MLPA, NGS	C	Neuro
Chronic progressive external ophthalmoplegia type 4	CPEO4, PEOA4 progressive external ophthalmoplegia 4	610131	POLG2		604983	SEQ, MLPA, NGS	C	Neuro
Chronic progressive external ophthalmoplegia type 5	CPEO5, PEOA5 progressive external ophthalmoplegia 5	613077	RRM2B		604712	SEQ, MLPA, NGS	C	Neuro
Citrullinemia, classic	Citrullinemia type I, CTLN1	215700	ASS1		603470	SEQ, NGS	C	Meta
Citrullinemia, classic	Citrullinemia type I, CTLN1	215700	ASS1		603470	SEQ, NGS	C	Path
Citrullinemia, type II, adult-onset	CTLN2, Citrin deficiency	603471	SLC25A13		603859	SEQ, NGS	C	Meta
Citrullinemia, type II, adult-onset	CTLN2, citrin deficiency	603471	SLC25A13		603859	SEQ, NGS	C	Path
Citrullinemia, type II, neonatal-onset	Cholestasis, neonatal intrahepatic, caused by citrin deficiency, NICCD	605814	SLC25A13		603859	SEQ, NGS	C	Meta
Citrullinemia, type II, neonatal-onset	Neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD	605814	SLC25A13		603859	SEQ, NGS	C	Path
Cleidocranial dysplasia	CCD	119600	RUNX2		600211	SEQ, MLPA, NGS	C	Tissue
Cockayne syndrome, type A	CSA	216400	ERCC8		609412	SEQ, NGS	C	Syndro
Cockayne syndrome, type B	CSB	133540	ERCC6		609413	SEQ, NGS	C	Syndro
Coffin-Lowry syndrome		303600	RPS6KA3		300075	SEQ, MLPA, NGS	C	Syndro
Cohen syndrome	COH1	216550	VPS13B		607817	SEQ, MLPA, NGS	C	Syndro
Colorectal Cancer, susceptibility type 10		612591	POLD1		174761	SEQ, NGS	C	Tumor
Colorectal Cancer, susceptibility type 12		615083	POLE		174762	SEQ, NGS	C	Tumor
Combined saposin deficiency		611721	PSAP		176801	SEQ, NGS	C	Neuro
Complex cortical dysplasia with other brain malformations type 1	CDCBM1	614039	TUBB3		602661	SEQ, NGS	C	Neuro
Congenital bilateral absence of vas deferens	CBAVD	277180	CFTR		602421	SEQ, MLPA, NGS	C	Syndro
Congenital fibrosis of extraocular muscles type 1	CFEOM1	135700	KIF21A		608283	SEQ, NGS	C	Sensory
Congenital fibrosis of extraocular muscles type 2	CFEOM2	602078	PHOX2A	ARIX	602753	SEQ, NGS	C	Sensory
Congenital fibrosis of extraocular muscles type 3A	CFEOM3A	600638	TUBB3		602661	SEQ, NGS	C	Sensory
Congenital fibrosis of extraocular muscles type 3B	CFEOM3B	135700	KIF21A		608283	SEQ, NGS	C	Sensory
Congenital heart defects, multiple types, 5		617912	GATA5		611496	SEQ, NGS	C	Tissue
Congenital nongoitrous hypothyroidism-1	CHNG1	275200	TSHR		603372	SEQ, MLPA, NGS	C	Meta
Contractural arachnodactyly, congenital	CCA, Beals syndrome, Beals-Hecht syndrome	121050	FBN2 exons 8, 9, 17, 24 – 35		612570	SEQ	C	Tissue
Cornelia de Lange syndrome 1	CDLS1	122470	NIPBL		608667	SEQ, MLPA, NGS	C	Syndro
Coronary artery disease, autosomal dominant, 2	ADCAD2	610947	LRP6		603507	SEQ, NGS	C	Cardio
Corpus callosum, agenesis of, with abnormal genitalia	Proud syndrome	300004	ARX		300382	SEQ, MLPA, NGS	C	Syndro
Costello syndrome	Faciocutaneoskeletal (FCS) syndrome	218040	HRAS		190020	SEQ, NGS	C	Syndro
Cowden syndrome, type 1		158350	PTEN		601728	SEQ, MLPA, NGS	C	Tumor
Cowden syndrome, type 2		612359	SDHB		185470	SEQ, MLPA, NGS	C	Tumor
Cowden syndrome, type 3		615106	SDHD		602690	SEQ, MLPA, NGS	C	Tumor
Cowden syndrome, type 5		615108	PIK3CA		171834	SEQ, NGS	C	Tumor
Craniosynostosis type 1	CRS1	123100	TWIST1		601622	SEQ, MLPA, NGS	C	Syndro
CRASH syndrome	Corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus	303350	L1CAM		308840	SEQ, MLPA, NGS	C	Syndro
Creatine phosphokinase, elevated serum	high serum CPK	123320	CAV3		601253	SEQ, MLPA, NGS	C	Cardio
Creutzfeld-Jakob disease	familial, CJD	123400	PRNP		176640	SEQ, NGS	C	Neuro
Crigler-Najjar syndrome type I	Hyperbilirubinemia, Crigler-Najjar type I (HBLRCN1)	218800	UGT1A1	UGT1	191740	SEQ, NGS	C	Meta
Crigler-Najjar syndrome type II	Hyperbilirubinemia, Crigler-Najjar type II (HBLRCN2)	606785	UGT1A1	UGT1	191740	SEQ, NGS	C	Meta
Crouzon syndrome	Craniofacial dysostosis, type 1, CFD1	123500	FGFR2		176943	SEQ, MLPA, NGS	C	Syndro
Crouzon syndrome with acanthosis nigricans	CAN	612247	FGFR3 mutation p.Ala391Glu		134934	SEQ	C	Syndro
Cryopyrin-associated periodic syndrome 3	CAPS3, CINCA syndrome	607115	NLRP3		606416	SEQ, NGS	C	Fever
Currarino syndrom		176450	MNX1		142994	SEQ, NGS	C	Syndro
Cutaneous malignant melanoma-3	CMM3	609048	CDK4 only exon 2 and MLPA		123829	SEQ, MLPA	C	Neuro
Cystic fibrosis	CF, mucoviscidosis	219700	CFTR		602421	SEQ, MLPA, NGS	C	Meta
Darier-White disease	DAR, keratosis follicularis	124200	ATP2A2		108740	SEQ, NGS	D	Geno
De Sanctis-Cacchione syndrome		278800	ERCC6		609413	SEQ, NGS	D	Syndro
Deafness, autosomal dominant type 8/12	DFNA12/DFNA8	601543	TECTA		602574	SEQ, NGS	D	Sensory
Deafness, autosomal dominant, type 13	DFNA13	601868	COL11A2		120290	SEQ, NGS	D	Sensory
Deafness, autosomal dominant, type 2B	DFNA2B	612644	GJB3	Connexin 31	603324	SEQ, MLPA, NGS	D	Sensory
Deafness, autosomal recessive type 21	DFNB21	603629	TECTA		602574	SEQ, NGS	D	Sensory
Deafness, autosomal recessive, type 1A	DFNB1A	220290	GJB2	Connexin 26	121011	SEQ, MLPA, NGS	D	Sensory
Deafness, autosomal recessive, type 1B	DFNB1B	612645	GJB6, only CNV	Connexin 30	604418	MLPA	D	Sensory
Deafness, autosomal recessive, type 53	DFNB53	609706	COL11A2		120290	SEQ, NGS	D	Sensory
Deafness, X-linked type 2	DFNX2	304400	POU3F4		300039	SEQ, MLPA, NGS	D	Sensory
Deafness, X-linked, conductive with stapes fixation	DFN3	304400	POU3F4		300039	SEQ, MLPA, NGS	D	Sensory
Deafness, X-linked, type 1	DFNX1	304500	PRPS1		311850	SEQ, NGS	D	Sensory
Deafness-optic atrophy plus syndrome	dominant optic atrophy plus syndrome, DOA+	125250	OPA1		605290	SEQ, MLPA, NGS	D	Sensory
Diabetes mellitus, noninsulin-dependent	NIDDM	125853	PPARG		601487	SEQ, MLPA, NGS	D	Meta
DiGeorge syndrome		188400	del22q11.2			MLPA	D	Micro
DiGeorge syndrome / velocardiofacial syndrome complex-2		601362	del10p13-14			MLPA	D	Micro
Dihydropyrimidinase deficiency	DPYSD, Dihydropyrimidinuria	222748	DPYS		613326	SEQ, NGS	D	Meta
Dihydropyrimidine dehydrogenase deficiency		274270	DPYD exons 11, 13, 14 and 22		612779	SEQ	D	Meta
DOPA-responsive dystonia due to sepiapterin reductase deficiency		612716	SPR		182125	SEQ, NGS	D	Neuro
DOPA-responsive dystonia, autosomal dominant	DRD, Segawa syndrome	128230	GCH1	DYT5A	600225	SEQ, MLPA, NGS	D	Neuro
DOPA-responsive dystonia, autosomal recessive	DRD, Segawa syndrome	605407	TH	DYT5B	191290	SEQ, MLPA, NGS	D	Neuro
Dravet syndrome	Severe myoclonic epilepsy of infancy, SMEI	607208	SCN1A		182389	SEQ, MLPA, NGS	D	Epi
Du Pan syndrome	fibular hypoplasia and complex brachydactyly	228900	GDF5		601146	SEQ, NGS	D	Tissue
Duane-radial ray syndrome	Okihiro syndrome	607323	SALL4		607343	SEQ, MLPA, NGS	D	Syndro
Duchenne muscular dystrophy	DMD	310200	DMD		300377	SEQ, MLPA, NGS	D	Neuro
Dyschondrosteosis Leri-Weill type	LWD	127300	SHOX		312865	SEQ, MLPA, NGS	D	Tissue
Dyserythropoietic anemia, congenital, type IV	CDAN4	613673	KLF1		600599	SEQ, NGS	D	Coagul
Dystonia type 12	DYT12	128235	ATP1A3		182350	SEQ, MLPA, NGS	D	Neuro
Dystonia-11, myoclonic	DYT11	159900	SGCE		604149	SEQ, MLPA, NGS	D	Neuro
Early-onset vitelliform macular dystrophy	VMD2	153700	BEST1		607854	SEQ, MLPA, NGS	E	Sensory
EEC syndrome 3	ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	604292	TP63	p63, TP73L	603273	SEQ, NGS	E	Syndro
Ehlers-Danlos syndrome type IV	vascular type	130050	COL3A1		120180	SEQ, MLPA, NGS	E	Tissue
Ehlers-Danlos syndrome, arthrochalasia type 1	EDSARTH1	130060	COL1A1		120150	SEQ, MLPA, NGS	E	Tissue
Ehlers-Danlos syndrome, arthrochalasia type 2	EDSARTH2	617821	COL1A2		120160	SEQ, MLPA, NGS	E	Tissue
Ehlers-Danlos syndrome, classic type 1	EDSCL1	130000	COL5A1		120215	SEQ, MLPA, NGS	E	Tissue
Ehlers-Danlos syndrome, classic type 2	EDSCL2	130010	COL5A2		120190	SEQ, NGS	E	Tissue
Ehlers-Danlos syndrome, musculocontractural type 1	EDSMC1	601776	CHST14		608429	SEQ, NGS	E	Tissue
Eiken skeletal dysplasia	Eiken syndrome	600002	PTH1R		168468	SEQ, NGS	E	Tissue
Emery-Dreifuss muscular dystrophy type 1, X-linked	EDMD1	310300	EMD		300384	SEQ, NGS	E	Neuro
Emery-Dreifuss muscular dystrophy type 2, autosomal dominant		181350	LMNA	Lamin-A/C	150330	SEQ, MLPA, NGS	E	Neuro
Emery-Dreifuss muscular dystrophy type 3, autosomal recessive		616516	LMNA	Lamin-A/C	150330	SEQ, MLPA, NGS	E	Neuro
Emery-Dreifuss muscular dystrophy type 6, X-linked Typ 6	EDMD6	300696	FHL1		300163	SEQ, NGS	E	Neuro
Encephalopathy, neonatal severe		300673	MECP2		300005	SEQ, MLPA, NGS	E	Syndro
Epilepsy, female-restricted with mental retardation	EFMR, Juberg-Hellman syndrome	300088	PCDH19		300460	SEQ, MLPA, NGS	E	Epi
Epileptic encephalopathy, early infantile, type 1	EIEE1, X-linked infantile spasm syndrome, ISSX, West syndrome	308350	ARX		300382	SEQ, MLPA, NGS	E	Epi
Epileptic encephalopathy, early infantile, type 2	EIEE2	300672	CDKL5		300203	SEQ, MLPA, NGS	E	Epi
Epileptic encephalopathy, early infantile, type 29	EIEE29	616339	AARS		601065	SEQ, NGS	E	Epi
Epiphyseal dysplasia, multiple, 2	EDM2	600204	COL9A2		120260	SEQ, NGS	E	Tissue
Episodic ataxia type 1	Episodic ataxia with myokymia	160120	KCNA1		176260	SEQ, MLPA, NGS	E	Neuro
Episodic ataxia type 2	episodic ataxia with myokymia	108500	CACNA1A		601011	SEQ, MLPA, NGS	E	Neuro
Episodic ataxia type 5	EA5	613855	CACNB4		601949	SEQ, NGS	E	Neuro
Episodic ataxia type 6	EA6	612656	SLC1A3		600111	SEQ, NGS	E	Neuro
Erythromelalgia, primary	erythermalgia	133020	SCN9A		603415	SEQ, NGS	E	Neuro
Exostoses, multiple, type 1	multiple hereditary exostoses type 1	133700	EXT1		608177	SEQ, MLPA, NGS	E	Tissue
Exostoses, multiple, type 2	multiple hereditary exostoses type 2	133701	EXT2		608210	SEQ, MLPA, NGS	E	Tissue
Fabry disease		301500	GLA		300644	SEQ, MLPA, NGS	F	Meta
Facial dysmorphism, immunodeficiency, livedo and short stature	FILS syndrome	615139	POLE		174762	SEQ, NGS	F	Syndro
Factor II defect	Prothrombin	188050	F2 G20210A	Factor II	176930	SEQ	F	Coagul
Factor IX deficiency	Hemophilia B, Christmas disease	306900	F9	Factor IX	300746	SEQ, MLPA, NGS	F	Coagul
Factor V deficiency	Factor V Leiden mutation	188055	F5 FVL mutation	Factor V	612309	SEQ	F	Coagul
Factor VII deficiency	Hypoproconvertinemia	227500	F7	Factor VII	613878	SEQ, MLPA, NGS	F	Coagul
Factor XI deficiency	Hemophilia C, plasma thromboplastin antecedent	612416	F11		264900	SEQ, MLPA, NGS	F	Coagul
Factor XII deficiency	Hageman factor deficiency	234000	F12		610619	SEQ, MLPA, NGS	F	Coagul
Failure of tooth eruption, primary, nonsyndromic		125350	PTH1R		168468	SEQ, NGS	F	Tissue
Familial adenomatous polyposis coli, familial polyposis of the colon	FAP	175100	APC		611731	SEQ, MLPA, NGS	F	Tumor
Familial adenomatous polyposis coli, familial polyposis of the colon, type 3	FAP3	616415	NTHL1		602656	SEQ, NGS	F	Tumor
Familial adenomatous polyposis coli, familial polyposis of the colon, type 4	FAP4	617100	MSH3		600887	SEQ, NGS	F	Tumor
Familial atypical mole-malignant melanoma syndrome	FAMMM, cutaneous malignant melanoma-1, CMM1, familial melanoma, MLM	155600	CDK4 exon 2		123829	SEQ	F	Tumor
Familial atypical mole-malignant melanoma syndrome	FAMMM, familial melanoma, MLM	155600	CDKN2A		600160	SEQ, MLPA, NGS	F	Tumor
Familial breast cancer		114480	ATM		607585	SEQ, MLPA, NGS	F	Tumor
Familial breast cancer		114480	CHEK2		604373	SEQ, MLPA, NGS	F	Tumor
Familial breast-ovarian cancer type 1	HBOC1	604370	BRCA1		113705	SEQ, MLPA, NGS	F	Tumor
Familial breast-ovarian cancer type 2	HBOC2	612555	BRCA2		600185	SEQ, MLPA, NGS	F	Tumor
Familial breast-ovarian cancer type 3	HBOC3	613399	RAD51C	FANCO	602774	SEQ, MLPA, NGS	F	Tumor
Familial breast-ovarian cancer type 4	HBOC4	614291	RAD51D		602954	SEQ, MLPA, NGS	F	Tumor
Familial cold autoinflammatory syndrome	FCAS, cryopyrin-associated periodic syndrome 1, CAPS1	120100	NLRP3		606416	SEQ, NGS	F	Fever
Familial gestational hyperthyroidism		603373	TSHR		603372	SEQ, MLPA, NGS	F	Meta
Familial hemiplegic migraine type 1	FHM1	141500	CACNA1A		601011	SEQ, MLPA, NGS	F	Neuro
Familial hemiplegic migraine type 2	FHM2	602481	ATP1A2		182340	SEQ, MLPA, NGS	F	Neuro
Familial hemiplegic migraine type 3	FHM3	609634	SCN1A		182389	SEQ, MLPA, NGS	F	Neuro
Familial mediterranean fever, dominant or recessive	FMF, autosomal dominant /autosomal recessive	134610 / 249100	MEFV		608107	SEQ, MLPA, NGS	F	Fever
Familial medullary thyroid carcinoma	FMTC	155240	RET		164761	SEQ, MLPA, NGS	F	Tumor
Familial periodic fever	tumor necrosis factor receptor-associated periodic syndrome (TRAPS)	142680	TNFRSF1A		191190	SEQ, NGS	F	Fever
Fatal familial insomnia	FFI	600072	PRNP		176640	SEQ, NGS	F	Neuro
Fibrochondrogenesis type 1	FBCG1	228520	COL11A1		120280	SEQ, MLPA, NGS	F	Tissue
Fibrochondrogenesis type 2	FBCG2	614524	COL11A2		120290	SEQ, NGS	F	Tissue
Floating-Harbor syndrome	FHS	136140	SRCAP exon 30 to 34		611421	SEQ	F	Syndro
Focal dermal hypoplasia	Goltz-Gorlin syndrome	305600	PORCN		300651	SEQ, NGS	F	Syndro
Foveal hypoplasia	FVH1	136520	PAX6		607108	SEQ, MLPA, NGS	F	Sensory
Frank-ter Haar syndrome	FTHS	249420	SH3PXD2B		613293	SEQ, NGS	F	Syndro
Friedreich ataxia	Friedreich disease, FRDA	229300	FXN repeat		606829	REP	F	Neuro
Frontotemporal dementia	FTD	600274	MAPT		157140	SEQ, MLPA, NGS	F	Neuro
Frontotemporal dementia and/or amyotrophic lateral sclerosis	FTDALS1	105550	C9orf72 repeat		614260	REP	F	Neuro
Frontotemporal dementia type 3	FTD3	600795	CHMP2B		609512	SEQ, NGS	F	Neuro
Frontotemporal dementia with parkinsonism	Multiple system tauopathy with presenile dementia, FTD17	600274	MAPT		157140	SEQ, MLPA, NGS	F	Neuro
Frontotemporal dementia with TDP43 inclusions		612069	TARDBP	TDP43	605078	SEQ, NGS	F	Neuro
Frontotemporal lobar degeneration with TDP43 inclusions	FTLD-TDP, Frontotemporal dementia, ubiquitin-positive, FTDU	607485	GRN	PGRN	138945	SEQ, MLPA, NGS	F	Neuro
Fructose intolerance, hereditary	Fructosemia, aldolase B deficiency	229600	ALDOB		612724	SEQ, MLPA, NGS	F	Meta
Fumarase deficiency	Fumaric aciduria	606812	FH		136850	SEQ, MLPA, NGS	F	Meta
Galactosemia	GALAC1	230400	GALT		606999	SEQ, MLPA, NGS	G	Meta
Generalized epilepsy with febrile seizures plus, type 1	GEFS+1	604233	SCN1B		600235	SEQ, NGS	G	Epi
Generalized epilepsy with febrile seizures plus, type 2	GEFS+2	604403	SCN1A		182389	SEQ, MLPA, NGS	G	Epi
Generalized epilepsy with febrile seizures plus, type 7	GEFS+7	613863	SCN9A		603415	SEQ, NGS	G	Epi
Gerstmann-Sträussler-Scheinker syndrome	GSSS	137440	PRNP		176640	SEQ, NGS	G	Neuro
Gilbert syndrome		143500	UGT1A1	UGT1	191740	SEQ, NGS	G	Meta
Gillespie syndrome	GLSP	206700	ITPR1		147265	SEQ, MLPA, NGS	G	Neuro
Glass syndrome	SATB2-associated syndrome	612313	SATB2		608148	SEQ, MLPA, NGS	G	Syndro
Glomerulocystic kidney disease with hyperuricemia and isosthenuria		609886	UMOD		191845	SEQ, NGS	G	Meta
Glomuvenous malformations	glomangiomas	138000	GLMN		601749	SEQ, NGS	G	Tumor
Glucose transport defect, blood-brain barrier	GLUT1-deficiency syndrome 1	606777	SLC2A1	GLUT1	138140	SEQ, MLPA, NGS	G	Neuro
GLUT1 deficiency syndrome 1	GLUT1DS1	606777	SLC2A1	GLUT1	138140	SEQ, MLPA, NGS	G	Epi
Glycine encephalopathy	GCE, Hyperglycinemia nonketotic (NKH)	605899	AMT	GCST	238310	SEQ, MLPA, NGS	G	Meta
Glycogen storage disease IV	GSD4, Andersen disease	232500	GBE1		607839	SEQ, NGS	G	Meta
Glycogen storage disease V	GSD5, McArdle disease	232600	PYGM		608455	SEQ, NGS	G	Meta
Gnathodiaphyseal dysplasia	GDD	166260	ANO5		608662	SEQ, MLPA, NGS	G	Syndro
Greig cephalopolysyndactyly syndrome	Polysyndactyly with peculiar skull shape	175700	GLI3		165240	SEQ, NGS	G	Syndro
Gusher syndrome		304400	POU3F4		300039	SEQ, MLPA, NGS	G	Sensory
Hailey-Hailey disease	Benign familial pemphigus, BCPM	169600	ATP2C1		604384	SEQ, NGS	H	Geno
HARP syndrome	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	607236	PANK2		606157	SEQ, MLPA, NGS	H	Syndro
Hartnup disorder	HND	234500	SLC6A19		608893	SEQ, NGS	H	Meta
Hematuria, familial benign	Thin-basement-membrane nephropathy, TBMN	141200	COL4A3		120070	SEQ, MLPA, NGS	H	Kidney
Hematuria, familial benign	Thin-basement-membrane nephropathy, TBMN	141200	COL4A3		120070	SEQ, MLPA, NGS	H	Syndro
Hemochromatosis		235200	HFE exon 2 and exon 4		613609	SEQ	H	Meta
Hennekam syndrome	Hennekam lymphangiectasia-lymphedema syndrome, HKLLS1	235510	CCBE1		612753	SEQ, NGS	H	Syndro
Hereditary diffuse gastric cancer		137215	CDH1		192090	SEQ, MLPA, NGS	H	Tumor
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke	HERNS syndrome	192315	TREX1		606609	SEQ, MLPA, NGS	H	Syndro
Hereditary leiomyomatosis and renal cell cancer	HLRCC	150800	FH		136850	SEQ, MLPA, NGS	H	Tumor
Hereditary leiomyomatosis and renal cell cancer	HLRCC	150800	FH		136850	SEQ, MLPA, NGS	L	Kidney
Hereditary mixed polyposis syndrome type 1	HMPS1	601228	GREM1 only CNV-analysis		603054	MLPA, NGS	H	Tumor
Hereditary mixed polyposis syndrome type 2	HMPS2	610069	BMPR1A		601299	SEQ, MLPA, NGS	H	Tumor
Hereditary motor neuropathy type VB, distal	HMN5B	614751	REEP1		609139	SEQ, MLPA, NGS	H	Neuro
Hereditary neuralgic amyotrophy	HNA	162100	Sept.9		604061	SEQ, NGS	H	Neuro
Hereditary nonpolyposis colorectal cancer type I	HNPCC, Lynch syndrome	120435	MSH2		609309	SEQ, MLPA, NGS	H	Tumor
Hereditary nonpolyposis colorectal cancer type II	HNPCC, Lynch syndrome	609310	MLH1		120436	SEQ, MLPA, NGS	H	Tumor
Hereditary nonpolyposis colorectal cancer type IV	HNPCC, Lynch syndrome	614337	PMS2		600259	SEQ, MLPA, NGS	H	Tumor
Hereditary nonpolyposis colorectal cancer type V	HNPCC, Lynch syndrome	614350	MSH6		600678	SEQ, MLPA, NGS	H	Tumor
Hereditary pancreatitis	PCTT	167800	CFTR		602421	SEQ, MLPA, NGS	H	Tumor
Hereditary pancreatitis	PCTT	167800	CTRC		601405	SEQ, NGS	H	Tumor
Hereditary pancreatitis	PCTT	167800	PRSS1		276000	SEQ, MLPA, NGS	H	Tumor
Hereditary pancreatitis	PCTT	167800	SPINK1		167790	SEQ, MLPA, NGS	H	Tumor
Hereditary persistence of fetal hemoglobin type 6	HBFQTL6	613566	KLF1		600599	SEQ, NGS	H	Coagul
Hereditary, sensory and autonomic neuropathy type IA	HSAN1A, HSN1A	162400	SPTLC1		605712	SEQ, MLPA, NGS	H	Neuro
Hereditay neuropathy with pressure palsies	HNPP, tomaculous neuropathy	162500	PMP22		601097	SEQ, MLPA, NGS	H	Neuro
Hirschsprung disease type 1	HSCR1	142623	RET		164761	SEQ, MLPA, NGS	H	Syndro
Hirschsprung disease type 2	HSCR2	600155	EDNRB		131244	SEQ, MLPA, NGS	H	Syndro
Hirschsprung disease type 4	HSCR4	613712	EDN3		131242	SEQ, MLPA, NGS	H	Syndro
Holt-Oram syndrome	HOS	142900	TBX5		601620	SEQ, MLPA, NGS	H	Syndro
Homocystinuria due to MTHFR deficiency		236250	MTHFR c.677C>T and c.1298A>C		607093	SEQ	H	Coagul
Huntington disease	HD, Huntington chorea	143100	HTT repeat		613004	REP	H	Neuro
Huntington disease-like 1	HDL1	603218	PRNP		176640	SEQ, NGS	H	Neuro
Huntington disease-like 2	HDL2	606438	JPH3 repeat		605268	REP	H	Neuro
Huntington disease-like 4	HDL4	607136	TBP repeat		600075	REP	H	Neuro
Hutchinson-Gilford progeria syndrome, childhood-onset		176670	LMNA		150330	SEQ, MLPA, NGS	H	Syndro
Hydrocephalus, X-linked	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	307000	L1CAM		308840	SEQ, MLPA, NGS	H	Syndro
Hypercholesterolemia, familial, 3	FHCL3	603776	PCSK9		607786	SEQ, NGS	H	Meta
Hypercholesterolemia, familial, type 1	FHCL1, Hyperlipoproteinemia, type IIA	143890	LDLR		606945	SEQ, MLPA, NGS	H	Meta
Hypercholesterolemia, familial, type 2	FHCL2	144010	APOB p.R3527Q [R3500Q], p.R3558C [R3531C]		107730	SEQ	H	Meta
Hypercholesterolemia, familial, type 4	FHCL4, autosomal recessive	603813	LDLRAP1		605747	SEQ, NGS	H	Meta
Hyperferritinemia-cataract syndrome		600886	FTL		134790	SEQ, NGS	H	Meta
Hyperferritinemia-cataract syndrome		600886	FTL		134790	SEQ, NGS	H	Sensory
Hyperferritinemia-cataract syndrome		600886	FTL		134790	SEQ, NGS	H	Syndro
Hyper-IgD syndrome	HIDS, hyperimmunoglobulinemia D and periodic fever, mevalonat kinase deficiency	260920	MVK		251170	SEQ, NGS	H	Fever
Hyper-IgE recurrent infection syndrome, autosomal dominant	HIES, Job syndrome	147060	STAT3		102582	SEQ, MLPA, NGS	H	Meta
Hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive	Immunodeficiency 35, tyrosine kinase 2 deficiency	611521	TYK2		176941	SEQ, NGS	H	Meta
Hyper-IgE syndrome, autosomal recessive	Immunodeficiency 23	615816	PGM3		172100	SEQ, NGS	H	Meta
Hyperinsulinemic hypoglycemia, familial, type 1	HHF1, hyperinsulinism, familial type 1	256450	ABCC8	SUR1	600509	SEQ, MLPA, NGS	H	Meta
Hyperinsulinemic hypoglycemia, familial, type 2	HHF2, hyperinsulinism, familial type 2	601820	KCNJ11	Kir6.2	600937	SEQ, NGS	H	Meta
Hyperinsulinemic hypoglycemia, familial, type 3	HHF3, hyperinsulinism, familial type 3	602485	GCK		138079	SEQ, MLPA, NGS	H	Meta
Hyperinsulinemic hypoglycemia, familial, type 4	HHF4, hyperinsulinism, familial type 4	609975	HADH		601609	SEQ, NGS	H	Meta
Hyperinsulinemic hypoglycemia, familial, type 6	HHF6, Hyperinsulinism-hyperammonemia syndrome	606762	GLUD1		138130	SEQ, NGS	H	Meta
Hyperinsulinemic hypoglycemia, familial, type 6	HHF6, Hyperinsulinism-hyperammonemia syndrome	606762	GLUD1		138130	SEQ, NGS	H	Path
Hyperkalemic periodic paralysis type 2	HYPP	170500	SCN4A		603967	SEQ, MLPA, NGS	H	Neuro
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	HHH syndrome	238970	SLC25A15		603861	SEQ, NGS	H	Meta
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	HHH syndrome	238970	SLC25A15		603861	SEQ, NGS	H	Path
Hyperphosphatasia with mental retardation syndrome 1	Mabry syndrome	239300	PIGV		610274	SEQ, NGS	H	Syndro
Hyperprolinemia, type I	HYRPRO1	239500	PRODH		606810	SEQ, NGS	H	Meta
Hyperprolinemia, type II	HYRPRO2, P5CDH1-Defizienz	239510	ALDH4A1	P5CDH	606811	SEQ, NGS	H	Meta
Hyperuricemic nephropathy, familial juvenile, 1	HNFJ1	162000	UMOD		191845	SEQ, NGS	H	Meta
Hypochondroplasia	HCH	146000	FGFR3		134934	SEQ, MLPA, NGS	H	Tissue
Hypodontia/oligodontia type 1	Tooth agenesis, selective, with or without orofacial cleft, STHAG1	106600	MSX1		142983	SEQ, NGS	H	Syndro
Hypogonadotropic hypogonadism with or without anosmia 12	HH12	614841	GNRH1		152760	SEQ, MLPA, NGS	H	Syndro
Hypogonadotropic hypogonadism with or without anosmia 7	HH7, idiopathic hypogonadotropic hypogonadism	146110	GNRHR		138850	SEQ, MLPA, NGS	H	Syndro
Hypogonadotropic hypogonadism with or without anosmia 8	HH8	614837	KISS1R		604161	SEQ, MLPA, NGS	H	Syndro
Hypokalemic periodic paralysis type 1	HOKPP1	170400	CACNA1S		114208	SEQ, MLPA, NGS	H	Neuro
Hypokalemic periodic paralysis type 2	HOKPP2	613345	SCN4A		603967	SEQ, MLPA, NGS	H	Neuro
Hypophosphatasia, adult	HPPA	146300	ALPL		171760	SEQ, MLPA, NGS	H	Meta
Hypophosphatasia, childhood	HPPC	241510	ALPL		171760	SEQ, MLPA, NGS	H	Meta
Hypophosphatasia, infantile	HPPI	241500	ALPL		171760	SEQ, MLPA, NGS	H	Meta
Idiopathic generalized epilepsy, susceptibility to, 9	EIG9	607682	CACNB4		601949	SEQ, NGS	I	Epi
Immunodeficiency, common variable, type 1	CVID1, antibody deficiency due to icos defect	607594	ICOS		604558	SEQ, NGS	I	Meta
Immunodeficiency, common variable, type 2	CVID2, antibody deficiency, hypogammaglobulinemia due to taci defect	240500	TNFRSF13B	TACI	604907	SEQ, NGS	I	Meta
Immunoglobulin A deficiency type 2	IGAD2	609529	TNFRSF13B	TACI	604907	SEQ, NGS	I	Meta
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia	IBMPFD1	167320	VCP		601023	SEQ, NGS	I	Neuro
Infantile, familial convulsions with paroxysmal choreoathetosis	ICCA	602066	PRRT2		614386	SEQ, MLPA, NGS	I	Neuro
Infantile-onset spinocerebellar ataxia, autosomal recessive		271245	TWNK	C10ORF2, TWINKLE	606075	SEQ, MLPA, NGS	I	Neuro
Insensitivity to pain, congenital, autosomal recessive	congenital indifference to pain, autosomal recessive, CIP	243000	SCN9A		603415	SEQ, NGS	I	Neuro
Intervertebral disc disease	IDD	603932	COL9A3 c.280C>T, c.307C>T		120270	SEQ	I	Tissue
Intracardiac myxoma		255960	PRKAR1A		188830	SEQ, MLPA, NGS	I	Tumor
Intractable childhood epilepsy with generalized tonic-clonic seizures	ICEGTC	607208	SCN1A		182389	SEQ, MLPA, NGS	I	Epi
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	IMAGE syndrome	614732	CDKN1C	KIP2	600856	SEQ, MLPA, NGS	I	Syndro
Iron-refractory iron deficiency anemia	IRIDA	206200	TMPRSS6		609862	SEQ, NGS	I	Meta
IVIC syndrome		147750	SALL4		607343	SEQ, MLPA, NGS	I	Syndro
Jackson-Weiss syndrome	Craniosynostosis, midfacial hypoplasia, and foot abnormalities	123150	FGFR1		136350	SEQ, MLPA, NGS	J	Syndro
Jacobsen syndrome	chromosome 11q deletion syndrome	147791	del11q23			MLPA	J	Micro
Jervell and Lange-Nielsen syndrome type 1	JLNS1, prolongation of the QT interval + congenital deafness	220400	KCNQ1		607542	SEQ, MLPA, NGS	J	Cardio
Jervell and Lange-Nielsen syndrome type 2	JLNS2	612347	KCNE1		176261	SEQ, MLPA, NGS	J	Cardio
Joubert syndrome type 10	JBTS10	300804	OFD1		300170	SEQ, NGS	J	Syndro
Juvenile myoclonus epilepsy, susceptibility, 6	EJM6	607682	CACNB4		601949	SEQ, NGS	J	Epi
Juvenile polyposis with hereditary hemorrhagic teleangiectasia syndrome	JP/HHT	175050	SMAD4	MADH4	600993	SEQ, MLPA, NGS	J	Tumor
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	JP/HHT	175050	SMAD4	MADH4	600993	SEQ, MLPA, NGS	J	Tissue
Juvenile, intestinal polyposis	JIP	174900	BMPR1A		601299	SEQ, MLPA, NGS	J	Tumor
Juvenile, intestinal polyposis	JIP	174900	SMAD4	MADH4	600993	SEQ, MLPA, NGS	J	Tumor
Kallmann syndrome 1	Hypogonadotropic hypogonadism 1 with or without anosmia, HH1	308700	ANOS1	KAL1	300836	SEQ, MLPA, NGS	K	Syndro
Kallmann syndrome 2	Hypogonadotropic hypogonadism 2 with or without anosmia	147950	FGFR1		136350	SEQ, MLPA, NGS	K	Syndro
Kelley-Seegmiller syndrome	HPRT-related gout/hyperuricemia	300323	HPRT1		308000	SEQ, MLPA, NGS	K	Meta
Kleefstra syndrome		610253	EHMT1		607001	SEQ, MLPA, NGS	K	Syndro
Klippel-Feil syndrome 1, autosomal dominant	KFS1	118100	GDF6		601147	SEQ, NGS	K	Syndro
Klippel-Feil syndrome 2, autosomal recessive	KFS2	214300	MEOX1		600147	SEQ, NGS	K	Syndro
Klippel-Feil syndrome 3, autosomal dominant	KFS3	613702	GDF3		606522	SEQ, NGS	K	Syndro
Klippel-Trenaunay-Weber syndrome, predisposition	KTS	149000	AGGF1, mutation exon 3: c.397G>A, p.E133K [VG5Q]		608464	SEQ	K	Syndro
Kniest dysplasia		156550	COL2A1		120140	SEQ, MLPA, NGS	K	Tissue
Lactase deficiency, congenital	alactasia, congenital	223000	LCT complete gene		603202	SEQ, MLPA, NGS	L	Meta
Lactose intolerance		223100	LCT c.1-13910T/C		603202	SEQ	L	Meta
Langer-Giedion syndrome	trichorhinophalangeal syndrome, type II	150230	del8q24.11-q24.13 (TRPS1, EXT1 genes)		604386, 608177	MLPA	L	Micro
Laurence-Moon syndrome	LNMS	245800	PNPLA6		603197	SEQ, NGS	L	Neuro
Leber congenital amaurosis type 17	LCA17	615360	GDF6		601147	SEQ, NGS	L	Sensory
Leber congenital amaurosis type 18	LCA18	608133	PRPH2		179605	SEQ, MLPA, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ATP6		516060	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ND1		516000	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ND3		516002	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ND4		516003	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ND4L		516004	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ND5		516005	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-ND6		516006	SEQ, NGS	L	Sensory
Leber hereditary optic neuropathy	LHON	535000	MT-TL1		590050	SEQ, NGS	L	Sensory
Legius syndrome	Neurofibromatosis type 1-like syndrome	611431	SPRED1		609291	SEQ, MLPA, NGS	L	Syndro
Leigh syndrome		256000	MT-ATP6		516060	SEQ, NGS	L	Neuro
Leigh syndrome		256000	MT-ND5		516005	SEQ, NGS	L	Neuro
Leigh syndrome		256000	MT-ND6		516006	SEQ, NGS	L	Neuro
Leigh syndrome		256000	SDHA		600857	SEQ, MLPA, NGS	L	Neuro
LEOPARD syndrome 1		151100	PTPN11		176876	SEQ, NGS	L	Syndro
LEOPARD syndrome 2		611554	RAF1		164760	SEQ, NGS	L	Syndro
LEOPARD syndrome 3	LPRD3	613707	BRAF		164757	SEQ, NGS	L	Syndro
Lesch-Nyhan syndrome		300322	HPRT1		308000	SEQ, MLPA, NGS	L	Meta
Leukemia, acute lymphoblastic type 3, susceptibility	ALL3	615545	PAX5		167414	SEQ, NGS	L	Tumor
Leukoencephalopathy with vanishing white matter	VWM	603896	EIF2B2		606454	SEQ, NGS	L	Neuro
Leukoencephalopathy with vanishing white matter	VWM	603896	EIF2B5		603945	SEQ, NGS	L	Neuro
Lewy-Body dementia	Lewy-Body variant of Alzheimer disease	127750	SNCA		163890	SEQ, MLPA, NGS	L	Neuro
Lewy-Body dementia	Lewy-Body variant of Alzheimer disease	127750	SNCB		602569	SEQ, NGS	L	Neuro
L-Ferritin deficiency	LFTD	615604	FTL		134790	SEQ, NGS	L	Meta
Lhermitte-Duclos syndrome		158350	PTEN		601728	SEQ, MLPA, NGS	L	Tumor
Li-Fraumeni syndrome 1	LFS1	151623	TP53		191170	SEQ, MLPA, NGS	L	Tumor
Li-Fraumeni syndrome 2	LFS2	609265	CHEK2		604373	SEQ, MLPA, NGS	L	Tumor
Limb-mammary syndrome		603543	TP63	p63, TP73L	603273	SEQ, NGS	L	Syndro
Lipodystrophy, congenital generalized, type 1	CGL1, Berardinelli-Seip syndrome	608594	AGPAT2		603100	SEQ, NGS	L	Meta
Lipodystrophy, congenital generalized, type 2	CGL2, Berardinelli-Seip syndrome	269700	BSCL2		606158	SEQ, NGS	B	Tissue
Lipodystrophy, congenital generalized, type 2	CGL2, Berardinelli-Seip syndrome	269700	BSCL2		606158	SEQ, NGS	L	Meta
Lipodystrophy, congenital generalized, type 3	CGL3, Berardinelli-Seip syndrome	612526	CAV1		601047	SEQ, NGS	L	Meta
Lipodystrophy, familial partial, type 2	FPLD2, Lipodystrophy type Dunnigan	151660	LMNA		150330	SEQ, MLPA, NGS	L	Meta
Lipodystrophy, familial partial, type 2	FPLD2, Lipodystrophy type Dunnigan	151660	LMNA		150330	SEQ, MLPA, NGS	L	Syndro
Lipodystrophy, familial partial, type 3	FPLD3	604367	PPARG		601487	SEQ, MLPA, NGS	L	Meta
Lipodystrophy, familial partial, type 4	FPLD4	613877	PLIN1		170290	SEQ, NGS	L	Meta
Lipodystrophy, familial partial, type 5	FPLD5	615238	CIDEC		612120	SEQ, NGS	L	Meta
Lipodystrophy, familial partial, type 7	FPLD7, lipodystrophy congenital cataracts, with or without neurodegeneration syndrome (LCCNS)	606721	CAV1		601047	SEQ, NGS	L	Meta
Lipodystrophy, partial, acquired, susceptibility	APLD, Barraquer-Simons syndrome	608709	LMNB2		150341	SEQ, NGS	L	Meta
Lissencephaly (X-linked) with ambiguous genitalia		300215	ARX		300382	SEQ, MLPA, NGS	L	Syndro
Lissencephaly type 1	LIS1	607432	PAFAH1B1	LIS1	601545	SEQ, MLPA, NGS	L	Syndro
Lissencephaly type 3	LIS3	611603	TUBA1A		602529	SEQ, NGS	L	Syndro
Lissencephaly, X-linked	LISX1	300067	DCX		300121	SEQ, MLPA, NGS	L	Syndro
Loeys-Dietz syndrome type 1	LDS1, Furlong syndrome	609192	TGFBR1		190181	SEQ, MLPA, NGS	L	Tissue
Loeys-Dietz syndrome type 2	LDS2	610168	TGFBR2		190182	SEQ, MLPA, NGS	L	Tissue
Loeys-Dietz syndrome type 3	LDS3, aneurysms-osteoarthritis syndrome	613795	SMAD3		603109	SEQ, NGS	L	Tissue
Loeys-Dietz syndrome type 4	LDS4	614816	TGFB2		190220	SEQ, NGS	L	Tissue
Loeys-Dietz syndrome type 5	LDS5	615582	TGFB3		190230	SEQ, MLPA, NGS	L	Tissue
Long QT syndrome 1	LQT1, Romano-Ward syndrome 1	192500	KCNQ1		607542	SEQ, MLPA, NGS	L	Cardio
Long QT syndrome 16	LQT16	618782	CALM3		114183	SEQ, NGS	L	Cardio
Long QT syndrome 2	LQT2, Romano-Ward syndrome 2	613688	KCNH2		152427	SEQ, MLPA, NGS	L	Cardio
Long QT syndrome 3	LQT3, Romano-Ward syndrome 3	603830	SCN5A		600163	SEQ, MLPA, NGS	L	Cardio
Long QT syndrome 5	LQT5	613695	KCNE1		176261	SEQ, MLPA, NGS	L	Cardio
Long QT syndrome 6	LQT6	613693	KCNE2		603796	SEQ, MLPA, NGS	L	Cardio
Long QT syndrome 7	LQT7, Anderson-Tawil syndrome	170390	KCNJ2		600681	SEQ, MLPA, NGS	L	Cardio
Long QT syndrome 9	LQT9	611818	CAV3		601253	SEQ, MLPA, NGS	L	Cardio
Lowe syndrome	Oculocerebrorenal syndrome	309000	OCRL		300535	SEQ, NGS	L	Syndro
Makrozephalie-Makrosomie-Faziale Dysmorphie-Syndrom	Chromosome 17q11.2 deletion syndrome	613675	RNF135			SEQ, NGS	M	Syndro
Malignant hyperthermia susceptibility 5	MHS5	601887	CACNA1S		114208	SEQ, MLPA, NGS	M	Meta
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	MDPL	615381	POLD1		174761	SEQ, NGS	M	Syndro
Mandibuloacral dysplasia with type a lipodystrophy	MADA	248370	LMNA		150330	SEQ, MLPA, NGS	M	Syndro
Marfan syndrome	MFS, MFS1	154700	FBN1		134797	SEQ, MLPA, NGS	M	Tissue
Marinesco-Sjorgren syndrome	MSS	248800	SIL1		608005	SEQ, NGS	M	Neuro
Marshall syndrome	MRSHS	154780	COL11A1		120280	SEQ, MLPA, NGS	M	Tissue
Maturity-onset diabetes of the young, type 1	MODY1	125850	HNF4A		600281	SEQ, MLPA, NGS	M	Meta
Maturity-onset diabetes of the young, type 2	MODY2	125851	GCK		138079	SEQ, MLPA, NGS	M	Meta
Maturity-onset diabetes of the young, type 3	MODY3	600496	HNF1A	TCF1	142410	SEQ, MLPA, NGS	M	Meta
Maturity-onset diabetes of the young, type 4	MODY4	606392	PDX1	IPF1	600733	SEQ, MLPA, NGS	M	Meta
Maturity-onset diabetes of the young, type 5	MODY5	137920	HNF1B	TCF2	189907	SEQ, MLPA, NGS	M	Meta
McLeod syndrome	MCLDS	300842	XK		314850	SEQ, NGS	M	Neuro
Medullary cystic kidney disease 2	MCKD2	603860	UMOD		191845	SEQ, NGS	M	Meta
Medulloblastoma, desmoplastic		155255	SUFU		607035	SEQ, MLPA, NGS	M	Tumor
Melanoma-pancreatic cancer syndrome, familial	MPCS, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome FAMMM-PC	606719	CDK4 exon 2		123829	SEQ	M	Tumor
Melanoma-pancreatic cancer syndrome, familial	MPCS, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome FAMMM-PC	606719	CDKN2A		600160	SEQ, MLPA, NGS	M	Tumor
Mental retardation, aphasia, shuffling gait, and adducted thumbs	MASA syndrome	303350	L1CAM		308840	SEQ, MLPA, NGS	M	Syndro
Mental retardation, X-linked 19	MRX19	300844	RPS6KA3		300075	SEQ, MLPA, NGS	M	Syndro
Mental retardation, X-linked syndromic, Lubs type	MRXSL	300260	MECP2		300005	SEQ, MLPA, NGS	M	Syndro
Mental retardation, X-linked, syndromic 13	MRX13	300055	MECP2		300005	SEQ, MLPA, NGS	M	Syndro
Metachondromatosis		156250	PTPN11		176876	SEQ, NGS	M	Tissue
Metachromatic leukodystrophy	Arylsulfatase A deficiency, diffuse cerebral sclerosis	250100	ARSA		607574	SEQ, NGS	M	Meta
Metachromatic leukodystrophy due to saposin B deficiency	Saposin B deficiency	249900	PSAP		176801	SEQ, NGS	M	Meta
Metaphyseal chondrodysplasia, Murk Jansen type		156400	PTH1R		168468	SEQ, NGS	M	Tissue
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	MDMHB	156510	RUNX2		600211	SEQ, MLPA, NGS	M	Tissue
Metatropic dysplasia	Metatropic dwarfism	156530	TRPV4		605427	SEQ, NGS	M	Tissue
Methemoglobinemia type 4		250790	CYB5A		613218	SEQ, NGS	M	Coagul
Methemoglobinemia, type 1 and 2	Methemoglobinemia due to deficiency of methemoglobin reductase	250800	CYB5R3		613213	SEQ, NGS	M	Coagul
Methionine adenosyltransferase deficiency	Hypermethioninemia	250850	MAT1A		610550	SEQ, NGS	M	Meta
Methylenetetrahydrofolate reductase deficiency	Homocystinuria due to MTHFR deficiency	236250	MTHFR		607093	SEQ, NGS	M	Meta
Mevalonic aciduria	MEVA	610377	MVK		251170	SEQ, NGS	M	Meta
Microcephaly and chorioretinopathy, autosomal recessive		251270	TUBGCP6		610053	SEQ, NGS	M	Syndro
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	MCLMR	152950	KIF11		148760	SEQ, NGS	M	Syndro
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma	MRCS	193220	BEST1		607854	SEQ, MLPA, NGS	M	Sensory
Microphthalmia with coloboma 6	MCOPCB6	613703	GDF3		606522	SEQ, NGS	M	Syndro
Microphthalmia, isolated 4	MCOP4	613094	GDF6		601147	SEQ, NGS	M	Syndro
Microphthalmia, isolated 7	MCOP7	613704	GDF3		606522	SEQ, NGS	M	Syndro
Microphthalmia, syndromic	MCOPS3, optic nerve hypoplasia and abnormalities of the central nervous system	206900	SOX2		184429	SEQ, MLPA, NGS	M	Syndro
Miller-Dieker lissencephaly syndrome	MDLS	247200	del17p13.3 (LIS1 gene)			MLPA	M	Micro
Mitochondrial complex II deficiency		252011	SDHA		600857	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 1	MNGIE, Mitochondrial neurogastrointestinal encephalopathy syndrome, MTDPS1	603041	TYMP	ECGF1	131222	SEQ, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 12, cardiomyopathic type	MTDPS12	615418	SLC25A4		103220	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 4A	MTDPS4A, Alpers syndrome	203700	POLG	POLG1	174763	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 4B	MTDPS4B, Mitochondrial neurogastrointestinal encephalopathy syndrome, MNGIE	613662	POLG	POLG1	174763	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 5	MTDPS5	612073	SUCLA2		603921	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 7, hepatocerebral type	MTDPS7	271245	TWNK	C10ORF2, TWINKLE	606075	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 8A	MTDPS8A	612075	RRM2B		604712	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 8B	MNGIE , mitochondrial neurogastrointestinal encephalopathy syndrome, MTDPS8B	612075	RRM2B		604712	SEQ, MLPA, NGS	M	Neuro
Mitochondrial DNA depletion syndrome type 9	MTDPS9	245400	SUCLG1		611224	SEQ, MLPA, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-ND1		516000	SEQ, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-ND5		516005	SEQ, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-ND6		516006	SEQ, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-TH		590040	SEQ, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-TK		590060	SEQ, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-TL1		590050	SEQ, NGS	M	Neuro
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes	MELAS	540000	MT-TS2		590085	SEQ, NGS	M	Neuro
Mitochondrial trifunctional protein deficiency	MTPD	609015	HADHA		600890	SEQ, NGS	M	Meta
Miyoshi muscular dystrophy 1	MMD1	254130	DYSF		603009	SEQ, MLPA, NGS	M	Neuro
Miyoshi muscular dystrophy 3	MMD3	613319	ANO5		608662	SEQ, MLPA, NGS	M	Neuro
Muckle-Wells syndrome	MWS, cryopyrin-associated periodic syndrome 2, CAPS2	191900	NLRP3		606416	SEQ, NGS	M	Fever
Mucopolysaccharidosis type IH, Hurler syndrome	MPS1-H	607014	IDUA		252800	SEQ, NGS	M	Meta
Mucopolysaccharidosis type IH/S, Hurler-Scheie syndrome	MPS1-H/S	607015	IDUA		252800	SEQ, NGS	M	Meta
Mucopolysaccharidosis type IIIB, Sanfilippo syndrome B	MPS IIIB	252920	NAGLU		609701	SEQ, NGS	M	Meta
Mucopolysaccharidosis type IIIC, Sanfilippo syndrome C	MPS IIIC	252930	HGSNAT		610453	SEQ, NGS	M	Meta
Mucopolysaccharidosis type IIID, Sanfilippo syndrome D	MPS IIID	252940	GNS		607664	SEQ, NGS	M	Meta
Mucopolysaccharidosis type IS, Scheie syndrome	MPS1-S	607016	IDUA		252800	SEQ, NGS	M	Meta
Muenke syndrome	MNKES	602849	FGFR3 mutation p.Pro250Arg		134934	SEQ	M	Syndro
Multiple endocrine neoplasia type 1	MEN1	131100	MEN1		613733	SEQ, MLPA, NGS	M	Tumor
Multiple endocrine neoplasia type 2 A	MEN2A	171400	RET		164761	SEQ, MLPA, NGS	M	Tumor
Multiple endocrine neoplasia type 2 B	MEN2B	162300	RET		164761	SEQ, MLPA, NGS	M	Tumor
Multiple endocrine neoplasia type 4	MEN4	610755	CDKN1B		600778	SEQ, MLPA, NGS	M	Tumor
Multiple system atrophy	MSA	146500	SNCA rs11931074		163890	SEQ	M	Neuro
Muscular dystrophy, congenital, 1C	MDC1C	606612	FKRP		606596	SEQ, MLPA, NGS	M	Neuro
Muscular dystrophy, limb-girdle, type 1B	LGMD1B	159001	LMNA		150330	SEQ, MLPA, NGS	M	Neuro
Muscular dystrophy, limb-girdle, type 1C	LGMD1C	607801	CAV3		601253	SEQ, MLPA, NGS	M	Neuro
Muscular dystrophy, limb-girdle, type 2A	LGMD2A	253600	CAPN3		114240	SEQ, MLPA, NGS	M	Neuro
Muscular dystrophy, limb-girdle, type 2B	LGMD2B	253601	DYSF		603009	SEQ, MLPA, NGS	M	Neuro
Muscular dystrophy, limb-girdle, type 2I	LGMD2I	607155	FKRP		606596	SEQ, MLPA, NGS	M	Neuro
Muscular dystrophy, limb-girdle, type 2L	LGMD2L	611307	ANO5		608662	SEQ, MLPA, NGS	M	Neuro
MUTYH-associated polyposis	MAP	608456	MUTYH		604933	SEQ, MLPA, NGS	M	Tumor
Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	MT-ND5		516005	SEQ, NGS	M	Neuro
Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	MT-TH		590040	SEQ, NGS	M	Neuro
Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	MT-TK		590060	SEQ, NGS	M	Neuro
Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	MT-TL1		590050	SEQ, NGS	M	Neuro
Myoclonic epilepsy associated with ragged-red fibers	MERRF	545000	MT-TS2		590085	SEQ, NGS	M	Neuro
Myofibromatose, infantile, type 1	IMF1	228550	PDGFRB		173410	SEQ, NGS	M	Neuro
Myofibromatose, infantile, type 2	IMF2	615293	NOTCH3		600276	SEQ, MLPA, NGS	M	Neuro
Myopathy, distal, Tateyama type	MPDT	614321	CAV3		601253	SEQ, MLPA, NGS	M	Neuro
Myotonia congenita Becker, autosomal recessive		255700	CLCN1		118425	SEQ, MLPA, NGS	M	Neuro
Myotonia congenita Thomsen, autosomal dominant		160800	CLCN1		118425	SEQ, MLPA, NGS	M	Neuro
Myotonia congenita, acetazolamide-responsive	sodium channel myotonia	608390	SCN4A		603967	SEQ, MLPA, NGS	M	Neuro
Myotubular myopathy/ centronuclear myopathy, autosomal dominant	CNM1	160150	DNM2		602378	SEQ, NGS	M	Neuro
Myotubular myopathy/ centronuclear myopathy, X-chromosomal-recessive	CNMX	310400	MTM1		300415	SEQ, NGS	M	Neuro
N-acetylglutamate synthase deficiency	NAGS deficiency	237310	NAGS		608300	SEQ, NGS	N	Meta
N-acetylglutamate synthase deficiency	NAGS deficiency	237310	NAGS		608300	SEQ, NGS	N	Path
Nail-patella syndrome	NPS, Turner-Kieser syndrome, Fong disease	161200	LMX1B	NPS1	602575	SEQ, MLPA, NGS	N	Syndro
Narcolepsy type 1	NRCLP1	161400	HCRT		602358	SEQ, NGS	N	Neuro
Narcolepsy type 5	NRCLP5	612851	TRA rs1154155	TRA@, T-cell receptor alpha, TCRA	186880	SEQ	N	Neuro
Narcolepsy type 7	NRCLP7	614250	MOG		159465	SEQ, NGS	N	Neuro
Narcolepsy, association		161400	HLA-DQB1*0602 allele		604305	SEQ	N	Neuro
NARP	Neuropathy, Ataxia, retinitis pigmentosa	551500	MT-ATP6		516060	SEQ, NGS	N	Neuro
Neurodegeneration with brain iron accumulation, type 1	NBIA1, formerly Hallervorden-Spatz disease	234200	PANK2		606157	SEQ, MLPA, NGS	N	Neuro
Neurodegeneration with brain iron accumulation, type 2A	NBIA2A, infantile neuroaxonal dystrophy	256600	PLA2G6		603604	SEQ, MLPA, NGS	N	Neuro
Neurodegeneration with brain iron accumulation, type 2B	NBIA2B	610217	PLA2G6		603604	SEQ, MLPA, NGS	N	Neuro
Neurodegeneration with brain iron accumulation, type 3	NBIA3	606159	FTL		134790	SEQ, NGS	N	Neuro
Neurodegeneration with brain iron accumulation, type 5	NBIA5	300894	WDR45		300526	SEQ, NGS	N	Neuro
Neurofibromatosis type 1	NF1	162200	NF1		613113	SEQ, MLPA, NGS	N	Tumor
Neurofibromatosis type 1-like syndrome	Legius syndrome	611431	SPRED1		609291	SEQ, MLPA, NGS	N	Tumor
Neurofibromatosis type 2	NF2	101000	NF2		607379	SEQ, MLPA, NGS	N	Tumor
Neuropathy with giant axonal swelling, type 1	Giant Axonal Neuropathy 1, GAN1	256850	GAN		605379	SEQ, NGS	N	Neuro
Neuropathy, distal hereditary motor, type IIA	HMN2A	158590	HSPB8		608014	SEQ, MLPA, NGS	N	Neuro
Neuropathy, distal hereditary motor, type IIB	HMN2B	608634	HSPB1		602195	SEQ, MLPA, NGS	N	Neuro
Neuropathy, distal hereditary motor, type VA	HMN5A	600794	BSCL2		606158	SEQ, NGS	N	Neuro
Niemann-Pick disease, type A		257200	SMPD1		607608	SEQ, MLPA, NGS	N	Meta
Niemann-Pick disease, type B		607616	SMPD1		607608	SEQ, MLPA, NGS	N	Meta
Niemann-Pick disease, type C1	NPC1	257220	NPC1		607623	SEQ, MLPA, NGS	N	Meta
Niemann-Pick disease, type C2	NPC2	607625	NPC2		601015	SEQ, MLPA, NGS	N	Meta
Nijmegen breakage syndrome	NBS	251260	NBN	NBS1	602667	SEQ, NGS	N	Tumor
Nonautoimmune hyperthyroidism		609152	TSHR		603372	SEQ, MLPA, NGS	N	Meta
Noonan syndrome 1	NS1	163950	PTPN11		176876	SEQ, NGS	N	Syndro
Noonan syndrome 3	NS3	609942	KRAS		190070	SEQ, NGS	N	Syndro
Noonan syndrome 4	NS4	610733	SOS1		182530	SEQ, NGS	N	Syndro
Noonan syndrome 5	NS5	611553	RAF1		164760	SEQ, NGS	N	Syndro
Noonan syndrome 6	NS6	613224	NRAS	NRAS1	64790	SEQ, NGS	N	Syndro
Noonan syndrome 7	NS7	613706	BRAF		164757	SEQ, NGS	N	Syndro
Noonan syndrome 8	NS8	615355	RIT1		609591	SEQ, NGS	N	Syndro
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	NSLL, CBL syndrome	613563	CBL		165360	SEQ, NGS	N	Syndro
Noonan syndrome-like with loose anagen hair		607721	SHOC2		602775	SEQ, NGS	N	Syndro
Obesity		601665	MC4R		155541	SEQ, MLPA, NGS	O	Meta
Obesity			SIM1		603128	SEQ, MLPA, NGS	O	Meta
Obesity, early-onset, with adrenal insufficiency and red hair	OBAIRH	609734	POMC		176830	SEQ, MLPA, NGS	O	Meta
Obesity, morbid, due to leptin deficiency		614962	LEP		164160	SEQ, MLPA, NGS	O	Meta
Obesity, morbid, due to leptin receptor deficiency		614963	LEPR		601007	SEQ, MLPA, NGS	O	Meta
Ocular albinism, type 1	OA1, Nettleship-Falls type	300500	GPR143	OA1 gene	300808	SEQ, MLPA, NGS	O	Meta
Oculopharyngeal muscular dystrophy	OPMD	164300	PABPN1 repeat		602279	REP	O	Neuro
Odontohypophosphatasia	HPPO	146300	ALPL		171760	SEQ, MLPA, NGS	O	Meta
Odontoonychodermal dysplasia	OODD	257980	WNT10A		606268	SEQ, MLPA, NGS	O	Syndro
Oligodontia-colorectal cancer syndrome	ODCRCS	608615	AXIN2		604025	SEQ, NGS	O	Syndro
Oliver-McFarlane syndrome	OMCS	275400	PNPLA6		603197	SEQ, NGS	O	Neuro
Optic atrophy	Kjer type, OPA1	165500	OPA1		605290	SEQ, MLPA, NGS	O	Sensory
Optic atrophy-7 with or without auditory neuropathy	OPA7		TMEM126A		612988	SEQ, NGS	O	Sensory
Optic nerve hypoplasia, bilateral	Optic nerve aplasia, bilateral	165550	PAX6		607108	SEQ, MLPA, NGS	O	Sensory
Ornithine transcarbamylase deficiency	Hyperammonemia due to OTC deficiency	311250	OTC		300461	SEQ, MLPA, NGS	O	Meta
Ornithine transcarbamylase deficiency	Hyperammonemia due to OTC deficiency	311250	OTC		300461	SEQ, MLPA, NGS	O	Path
Orofacial cleft type 5		608874	MSX1		142983	SEQ, NGS	O	Syndro
Orofaciodigital syndrome type 1	OFD I	311200	CXORF5		300170	SEQ, NGS	O	Syndro
Osseous heteroplasia, progressive	POH	166350	GNAS		139320	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type I	OI1	166200	COL1A1		120150	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type II	OI2	166210	COL1A1		120150	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type II	OI2	166210	COL1A2		120160	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type III	OI3	259420	COL1A1		120150	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type III	OI3	259420	COL1A2		120160	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type IV	OI4	166220	COL1A1		120150	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type IV	OI4	166220	COL1A2		120160	SEQ, MLPA, NGS	O	Tissue
Osteogenesis imperfecta, type XI	OI11	610968	FKBP10	FK506	607063	SEQ, NGS	O	Tissue
Otospondylomegaepiphyseal dysplasia, autosomal dominant	OSMEDA, Weissenbacher-Zweymuller syndrome, WZS, formerly: Stickler syndrome type 3, STL3	184840	COL11A2		120290	SEQ, NGS	O	Syndro
Otospondylomegaepiphyseal dysplasia, autosomal recessive	OSMED	215150	COL11A2		120290	SEQ, NGS	O	Tissue
Ovarioleukodystrophy	Vanishing white matter leukodystrophy with ovarian failure	603896	EIF2B2		606454	SEQ, NGS	O	Neuro
Ovarioleukodystrophy	Vanishing white matter leukodystrophy with ovarian failure	603896	EIF2B5		603945	SEQ, NGS	O	Neuro
Paget disease of bone	PDB3	602080	SQSTM1		601530	SEQ, NGS	P	Tissue
Pallister-Hall syndrome	hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly	146510	GLI3		165240	SEQ, NGS	P	Syndro
Pancreatic cancer, susceptibility, type 1	PNCA1	606856	PALLD		608092	SEQ, NGS	P	Tumor
Pancreatic cancer, susceptibility, type 2	PNCA2	613347	BRCA2		600185	SEQ, MLPA, NGS	P	Tumor
Pancreatic cancer, susceptibility, type 3	PNCA3	613348	PALB2		610355	SEQ, MLPA, NGS	P	Tumor
Pancreatic cancer, susceptibility, type 4	PNCA4	614320	BRCA1		113705	SEQ, MLPA, NGS	P	Tumor
Paragangliomas, familial, type 1	PGL1	168000	SDHD		602690	SEQ, MLPA, NGS	P	Tumor
Paragangliomas, familial, type 2	PGL2	601650	SDHAF2	SDH5	613019	SEQ, MLPA, NGS	P	Tumor
Paragangliomas, familial, type 3	PGL3	605373	SDHC		602413	SEQ, MLPA, NGS	P	Tumor
Paragangliomas, familial, type 4	PGL4	115310	SDHB		185470	SEQ, MLPA, NGS	P	Tumor
Paragangliomas, familial, type 5	PGL5	614165	SDHA		600857	SEQ, MLPA, NGS	P	Tumor
Paramyotonia congenita of von Eulenburg	PMC	168300	SCN4A		603967	SEQ, MLPA, NGS	P	Neuro
Parastremmatic dwarfism		168400	TRPV4		605427	SEQ, NGS	P	Tissue
Parkinson disease, autosomal dominant, type 1	PARK1, Lewy Body Parkinson disease	168601	SNCA		163890	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal dominant, type 4	PARK4, Lewy Body Parkinson disease	605543	SNCA		163890	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal dominant, type 5	PARK5	613643	UCHL1		191342	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal dominant, type 8	PARK8	607060	LRRK2		609007	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal recessive, adult-onset, type 14	PARK14, Dystonia-parkinsonismus	612953	PLA2G6		603604	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal recessive, early-onset, type 6	PARK6	605909	PINK1		608309	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal recessive, early-onset, type 7	PARK7	606324	PARK7	DJ1	602533	SEQ, MLPA, NGS	P	Neuro
Parkinson disease, autosomal recessive, juvenile, type 2	PARK2	600116	PARK2	PRKN	602544	SEQ, MLPA, NGS	P	Neuro
Paroxysmal extreme pain disorder	PEXPD or PEPD	167400	SCN9A		603415	SEQ, NGS	P	Neuro
Paroxysmal kinesigenic dyskinesia	PKD, Dystonie 10	128200	PRRT2		614386	SEQ, MLPA, NGS	P	Neuro
Partial deficiency of complement component 4		120790	SERPING1		606860	SEQ, MLPA, NGS	P	Coagul
Patterned dystrophy of retinal pigment epithelium, butterfly shaped	MDPT1	169150	PRPH2		179605	SEQ, MLPA, NGS	P	Sensory
Periodic fever, menstrual cycle-dependent	PMFC	614674	HTR1A promoter mutation -480delA		109760	SEQ	P	Fever
Perthes disease	Legg-Calve-Perthes disease	150600	COL2A1		120140	SEQ, MLPA, NGS	P	Tissue
Peutz-Jeghers syndrome	PJS	175200	STK11		602216	SEQ, MLPA, NGS	P	Tumor
Pfeiffer syndrome	FGFR1 136350 p.Pro252Arg	101600	FGFR1 p.Pro252Arg		136350	SEQ	P	Syndro
Pfeiffer syndrome		101600	FGFR2		176943	SEQ, MLPA, NGS	P	Syndro
Phenylketonuria	PKU, hyperphenylalaninemia	261600	PAH		612349	SEQ, MLPA, NGS	P	Meta
Pheochromocytoma	PCC	171300	MAX		154950	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma	PCC	171300	MAX		154950	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma	PCC	171300	RET		164761	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma	PCC	171300	RET		164761	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma	PCC	171300	SDHB		185470	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma	PCC	171300	SDHB		185470	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma	PCC	171300	SDHC		602413	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma	PCC	171300	SDHC		602413	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma	PCC	171300	SDHD		602690	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma	PCC	171300	SDHD		602690	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma	PCC	171300	TMEM127		613403	SEQ, NGS	P	Kidney
Pheochromocytoma	PCC	171300	TMEM127		613403	SEQ, NGS	P	Tumor
Pheochromocytoma	PCC	171300	VHL		608537	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma	PCC	171300	VHL		608537	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		MAX		154950	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		MAX		154950	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHAF2	SDH5	613019	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHAF2	SDH5	613019	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHB		185470	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHB		185470	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHC		602413	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHC		602413	SEQ, MLPA, NGS	P	Tumor
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHD		602690	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		SDHD		602690	SEQ, MLPA, NGS	P	Kidney
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		TMEM127		613403	SEQ, NGS	P	Kidney
Pheochromocytoma / Paraganglioma syndromes, familial	PCC/PGL		TMEM127		613403	SEQ, NGS	P	Tumor
Phosphoribosylpyrophosphate synthetase superactivity	PRPS-related Gout, hyperuricemia	300661	PRPS1		311850	SEQ, NGS	P	Meta
Pick disease of brain	Dementia with lobar atrophy and neuronal cytoplasmic inclusions	172700	MAPT		157140	SEQ, MLPA, NGS	P	Neuro
Pick disease of brain	Dementia with lobar atrophy and neuronal cytoplasmic inclusions	172700	PSEN1		104311	SEQ, MLPA, NGS	P	Neuro
Pigmented nodular adrenocortical disease, primary, 1	PPNAD1	610489	PRKAR1A		188830	SEQ, MLPA, NGS	P	Tumor
Pigmented nodular adrenocortical disease, primary, 1	PPNAD1	610489	PRKAR1A		188830	SEQ, MLPA, NGS	P	Kidney
Polycystic kidney disease 1	PKD1	173900	PKD1		601313	SEQ, MLPA, NGS	P	Kidney
Polycystic kidney disease 2	PKD2	613095	PKD2		173910	SEQ, MLPA, NGS	P	Kidney
Polycystic kidney disease type 1	PKD1	173900	PKD1		601313	SEQ, MLPA, NGS	P	Syndro
Polycystic kidney disease type 2	PKD2	613095	PKD2		173910	SEQ, MLPA, NGS	P	Syndro
Polycystic kidney disease type 3	PKD3	600666	GANAB		104160	SEQ, NGS	P	Kidney
Polycystic kidney disease type 3	PKD3	600666	GANAB		104160	SEQ, NGS	P	Syndro
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-2	PLOSL2	618193	TREM2		605086	SEQ, NGS	P	Neuro
Polycystic liver disease 1	PCLD1	174050	PRKCSH		177060	SEQ, NGS	P	Syndro
Polycystic liver disease 2	PCLD2	174050	SEC63		608648	SEQ, NGS	P	Syndro
Pontocerebellar hypoplasia type 2A	PCH2A	277470	TSEN54		608755	SEQ, NGS	P	Neuro
Pontocerebellar hypoplasia type 2B	PCH2B	612389	TSEN2		608753	SEQ, NGS	P	Neuro
Pontocerebellar hypoplasia type 2C	PCH2C	612390	TSEN34		608754	SEQ, NGS	P	Neuro
Pontocerebellar hypoplasia type 4	PCH4	225753	TSEN54		608755	SEQ, NGS	P	Neuro
Popliteal pterygium syndrome	PPS	119500	IRF6		607199	SEQ, MLPA, NGS	P	Syndro
Porencephaly type 1	POREN1, Brain Small Vessel Disease	175780	COL4A1		120130	SEQ, NGS	P	Neuro
Porencephaly type 2	POREN2, Brain Small Vessel Disease	2614483	COL4A2		120090	SEQ, NGS	P	Neuro
Porokeratosis type 3, actinic disseminated superficial	POROK3	175900	MVK		251170	SEQ, NGS	P	Geno
Porphyria cutanea tarda	Uroporphyrinogen decarboxylase deficiency	176100	UROD		613521	SEQ, MLPA, NGS	P	Meta
Porphyria, acute intermittent	AIP	176000	HMBS		609806	SEQ, MLPA, NGS	P	Meta
Porphyria, acute intermittent, nonerythroid variant	AIP	176000	HMBS		609806	SEQ, MLPA, NGS	P	Meta
Postaxial polydactyly type A1 and type B	PAPA1 (PAPB included)	174200	GLI3		165240	SEQ, NGS	P	Syndro
Potocki-Lupski syndrome	PTLS	610883	Dup17p11.2 (RAI1 gene)		607642	MLPA	P	Micro
Preaxial polydactyly type IV	Polysyndactyly, uncomplicated	174700	GLI3		165240	SEQ, NGS	P	Syndro
Precocious puberty, central,	CPPB1	176400	KISS1R		604161	SEQ, MLPA, NGS	P	Syndro
Premature ovarian failure 7	POF7	612964	NR5A1		184757	SEQ, MLPA, NGS	P	Syndro
Premature ovarian failure type 3	POF3	608996	FOXL2		605597	SEQ, MLPA, NGS	P	Syndro
Premature ovarian failure type 4	POF4	300510	BMP15		300247	SEQ, NGS	P	Syndro
Primary lateral sclerosis, juvenile	PLSJ	606353	ALS2		606352	SEQ, NGS	P	Neuro
Prion disease with protracted course		606688	PRNP		176640	SEQ, NGS	P	Neuro
Progressive external ophthalmoplegia autosomal recessive 1	PEOB1, chronic progressive external ophthalmoplegia type 1, CPEO1	258450	POLG	POLG1	174763	SEQ, MLPA, NGS	C	Neuro
Progressive external ophthalmoplegia autosomal dominant 1	PEOA1, chronic progressive external ophthalmoplegia type 1, CPEO1	157640	POLG	POLG1	174763	SEQ, MLPA, NGS	C	Neuro
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, type 3		609286	TWNK	C10orf2, TWINKLE	606075	SEQ, MLPA, NGS	P	Neuro
Protein C deficiency, autosomal dominant	THPH3	176860	PROC		612283	SEQ, MLPA, NGS	P	Coagul
Protein C deficiency, autosomal recessive	THPH4	612304	PROC		612283	SEQ, MLPA, NGS	P	Coagul
Protein S deficiency, autosomal dominant	THPH5	612336	PROS1		176880	SEQ, MLPA, NGS	P	Coagul
Protein S deficiency, autosomal recessive	THPH6	614514	PROS1		176880	SEQ, MLPA, NGS	P	Coagul
Protoporphyria, erythropoietic, X-linked	XLEPP	300752	ALAS2		301300	SEQ, NGS	P	Meta
Pseudohypoparathyroidism type 1A	PHP1A	103580	GNAS		139320	SEQ, MLPA, NGS	P	Meta
Pseudohypoparathyroidism type 1B	PHP1B	603233	GNAS		139320	SEQ, MLPA, NGS	P	Meta
Pseudohypoparathyroidism type 1C	PHP1C	612462	GNAS		139320	SEQ, MLPA, NGS	P	Meta
Pseudopseudohypoparathyroidism	PPHP	612463	GNAS		139320	SEQ, MLPA, NGS	P	Meta
PTEN hamartoma tumor syndrome		158350	PTEN		601728	SEQ, MLPA, NGS	P	Tumor
Pulmonary hypertension, primary, 3	PPH3	615343	CAV1		601047	SEQ, NGS	P	Cardio
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	PAPA syndrome	604416	PSTPIP1		606347	SEQ, NGS	P	Tissue
Pyruvate kinase deficiency of erythrocyte		266200	PKLR		609712	SEQ, MLPA, NGS	P	Meta
Raine syndrome	RNS, osteosclerotic bone dysplasia, lethal	259775	FAM20C		611061	SEQ, NGS	R	Syndro
Raine syndrome	RNS, osteosclerotic bone dysplasia, lethal	259775	FAM20C		611061	SEQ, NGS	R	Tissue
Rapp-Hodgkin syndrome	ectodermal dysplasia, anhidrotic, with cleft lip/palate	129400	TP63	p63, TP73L	603273	SEQ, NGS	R	Syndro
Renal cell carcinoma, papillary, 1, familial and somatic	RCCP1	605074	MET		64860	SEQ, NGS	R	Tumor
Renal cell carcinoma, papillary, 1, familial and somatic	RCCP1	605074	MET1		64860	SEQ, NGS	R	Kidney
Restless legs syndrome, periodic limb movements in sleep, type 6	RLS6	611185	BTBD9 rs3923809		611237	SEQ	R	Neuro
Retinal cone dystrophy type 3A	RCD3A	610024	PDE6H		601190	SEQ, NGS	R	Sensory
Retinal cone dystrophy type 3B	RCD3B	610356	KCNV2		607604	SEQ, NGS	R	Sensory
Retinitis pigmentosa 73	RP73	616544	HGSNAT		610453	SEQ, NGS	R	Sensory
Retinitis pigmentosa type 7, digenic included	RP7	608133	PRPH2		179605	SEQ, MLPA, NGS	R	Sensory
Retinitis punctata albescens	RPA	136880	PRPH2		179605	SEQ, MLPA, NGS	R	Sensory
Retinoblastoma	RB	180200	RB1		614041	SEQ, MLPA, NGS	R	Tumor
Retinoschisis 1, X-linked, juvenile		312700	RS1		300839	SEQ, NGS	R	Sensory
Rett syndrome		312750	MECP2		300005	SEQ, MLPA, NGS	R	Syndro
Rett syndrome, congenital variant		613454	FOXG1		164874	SEQ, MLPA, NGS	R	Syndro
Rippling muscle disease	RMD	606072	CAV3		601253	SEQ, MLPA, NGS	R	Neuro
Robinow syndrome, autosomal dominant		180700	WNT5A		164975	SEQ, NGS	R	Syndro
Saethre-Chotzen syndrome	SCS, acrocephalosyndactyly, type III	101400	TWIST1		601622	SEQ, MLPA, NGS	S	Syndro
Saethre-Chotzen syndrome with eyelid anomalies		101400	TWIST1		601622	SEQ, MLPA, NGS	S	Syndro
Scapuloperoneal spinal muscular atrophy	SPSMA, New England type	181405	TRPV4		605427	SEQ, NGS	S	Neuro
Schopf-Schulz-Passarge syndrome	SSPS, keratosis, palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis	606268	WNT10A		606268	SEQ, MLPA, NGS	S	Syndro
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	SANDO, sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive	607459	POLG	POLG1	174763	SEQ, MLPA, NGS	M	Neuro
Sessile serrated polyposis cancer syndrome	SSPCS	617108	RNF43		612482	SEQ, NGS	S	Neuro
Short QT syndrome 1	SQT1	609620	KCNH2		152427	SEQ, MLPA, NGS	S	Cardio
Short QT syndrome 2	SQT2	609621	KCNQ1		607542	SEQ, MLPA, NGS	S	Cardio
Short QT syndrome 3	SQT3	609622	KCNJ2		600681	SEQ, MLPA, NGS	S	Cardio
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg craniosynostosis syndrome	182212	SKI		164780	SEQ, NGS	S	Syndro
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Craniosynostosis syndrome	182212	SKI		164780	SEQ, NGS	S	Tissue
Sick sinus syndrome 1	SSS1, autosomal recessive	608567	SCN5A		600163	SEQ, MLPA, NGS	S	Cardio
Sick sinus syndrome 2	SSS2, autosomal dominant	163800	HCN4		605206	SEQ, NGS	S	Cardio
Sickle cell anemia	HBS	603903	HBB		141900	SEQ, MLPA, NGS	S	Coagul
Sideroblastic Anemia 2, pyridoxine-refractory		205950	SLC25A38		610819	SEQ, NGS	S	Coagul
Sideroblastic Anemia, X-linked	SIDBA1	300751	ALAS2		301300	SEQ, NGS	S	Coagul
Simpson-Golabi-Behmel syndrome, type 2	SGBS2	300209	OFD1		300170	SEQ, NGS	S	Syndro
Smith-Lemli-Opitz syndrome	SLOS	270400	DHCR7		602858	SEQ, MLPA, NGS	S	Syndro
Smith-Magenis syndrome		182290	del17p11.2 (RAI1 gene)		607642	MLPA	S	Micro
Smith-Magenis syndrome		182290	RAI1 (sequencing)		607642	SEQ, MLPA, NGS	S	Syndro
Sorbitol dehydrogenase deficiency with peripheral neuropathy	SORDD	618912	SORD		182500	SEQ, NGS	S	Neuro
Sotos syndrome	cerebral gigantism	117550	NSD1		606681	SEQ, MLPA, NGS	S	Syndro
Spastic ataxia, autosomal recessive, type 5	SPAX5	614487	AFG3L2		604581	SEQ, NGS	S	Neuro
Spastic Ataxia, Charlevoix-Saguenay type	SACS, spastic ataxia, autosomal recessive type 6, SPAX6, ARSACS	270550	SACS		604490	SEQ, MLPA, NGS	A	Neuro
Spastic paralysis, infantile-onset, ascending	IAHSP	607225	ALS2	KIAA1563	606352	SEQ, NGS	S	Neuro
Spastic paraplegia type 1, X-linked,	SPG1	303350	L1CAM		308840	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 10, autosomal dominant,	SPG10	604187	KIF5A		602821	SEQ, NGS	S	Neuro
Spastic paraplegia type 11, autosomal recessive	SPG11, spastic paraplegia with thin corpus callosum	604360	SPG11	KIAA1840, Spatacsin	610844	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 15, autosomal recessive	SPG15, spastic paraplegia and retinal degeneration, Kjellin syndrome	270700	ZFYVE26	KIAA0321, Spastizin	612012	SEQ, NGS	S	Neuro
Spastic paraplegia type 17, autosomal dominant	SPG17, Silver syndrome	270685	BSCL2		606158	SEQ, NGS	S	Neuro
Spastic paraplegia type 20, autosomal recessive	SPG20, spastic paraplegia with distal muscle wasting, Troyer syndrome	275900	SPG20	KIAA0610, Spartin	607111	SEQ, NGS	S	Neuro
Spastic paraplegia type 3, autosomal dominant	Strumpell disease	182600	ATL1	SPG3A	606439	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 31, autosomal dominant	SPG31	610250	REEP1		609139	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 39, autosomal recessive	SPG39	612020	PNPLA6		603197	SEQ, NGS	S	Neuro
Spastic paraplegia type 4, autosomal dominant	SPG4	182601	SPAST	SPG4	604277	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 5 A, autosomal recessive	SPG5A	270800	CYP7B1		603711	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 6, autosomal dominant	SPG6	600363	NIPA1		608145	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 7, autosomal recessive	SPG7	607259	SPG7		602783	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 79, autosomal recessive	SPG79, neurodegeneration with optic atrophy	615491	UCHL1		191342	SEQ, MLPA, NGS	S	Neuro
Spastic paraplegia type 8, autosomal dominant,	SPG8	603563	WASHC5	KIAA0196	610657	SEQ, NGS	S	Neuro
Specific language impairment	SLI		NFXL1			SEQ, NGS	S	Syndro
Spermatogenic failure type 8	SPGF8	613957	NR5A1		184757	SEQ, MLPA, NGS	S	Syndro
Spherocytosis, type 1	HS1	182900	ANK1		612641	SEQ, NGS	S	Meta
Spinal and bulbar muscular atrophy	SBMA, Kennedy disease	313200	AR, CAG repeat in exon 1		313700	REP	S	Neuro
Spinal muscular atrophy distal, congenital, nonprogressive	Spinal muscular atrophy, distal, congenital benign, with contractures	600175	TRPV4		605427	SEQ, NGS	S	Neuro
Spinal muscular atrophy type I	SMA1, Werdnig-Hoffmann disease	253300	SMN1		600354	SEQ, MLPA, NGS	S	Neuro
Spinal muscular atrophy type II	SMA2	253550	SMN1		600354	SEQ, MLPA, NGS	S	Neuro
Spinal muscular atrophy type III	SMA3	253400	SMN1		600354	SEQ, MLPA, NGS	S	Neuro
Spinal muscular atrophy type IV, adult form	SMA4	271150	SMN1		600354	SEQ, MLPA, NGS	S	Neuro
Spinal muscular atrophy, proximal, late-onset, autosomal dominant	Spinal muscular atrophy Finkel type	182980	VAPB		605704	SEQ, NGS	S	Neuro
Spinal muscular atrophy, type III, modifier of	SMA	253400	SMN2		601627	SEQ, MLPA, NGS	S	Neuro
Spinocerebellar ataxia type 1	SCA1	164400	ATXN1 repeat		601556	REP	S	Neuro
Spinocerebellar ataxia type 11	SCA11	604432	TTBK2		611695	SEQ, NGS	S	Neuro
Spinocerebellar ataxia type 12	SCA12	604326	PPP2R2B repeat		604325	REP	S	Neuro
Spinocerebellar ataxia type 15	SCA15	606658	ITPR1		147265	SEQ, MLPA, NGS	S	Neuro
Spinocerebellar ataxia type 17	SCA17	607136	TBP		600075	REP	S	Neuro
Spinocerebellar ataxia type 19	SCA19	607346	KCND3		605411	SEQ, NGS	S	Neuro
Spinocerebellar ataxia type 2	SCA2	183090	ATXN2 repeat		601517	REP	S	Neuro
Spinocerebellar ataxia type 23	SCA23	610245	PDYN		131340	SEQ, NGS	S	Neuro
Spinocerebellar ataxia type 28	SCA28	610246	AFG3L2		604581	SEQ, NGS	S	Neuro
Spinocerebellar ataxia type 29	SCA29	117360	ITPR1		147265	SEQ, MLPA, NGS	S	Neuro
Spinocerebellar ataxia type 3	SCA3, Machado-Joseph disease	109150	ATXN3 repeat		607047	REP	S	Neuro
Spinocerebellar ataxia type 6	SCA6	183086	CACNA1A exon 47 CAG repeat		601011	REP	S	Neuro
Spinocerebellar ataxia type 7	SCA7	164500	ATXN7 repeat		607640	REP	S	Neuro
Spinocerebellar ataxia type 8	SCA8	608768	ATXN8OS repeat		603680	REP	S	Neuro
Spinocerebellar ataxia with epilepsy	SCAE	607459	POLG	POLG1	174763	SEQ, MLPA, NGS	S	Neuro
Spinocerebellar ataxia, autosomal recessive type 1	AOA2	606002	SETX		608465	SEQ, MLPA, NGS	S	Neuro
Split-hand/foot malformation type 4	SHFM4	605289	TP63	p63, TP73L	603273	SEQ, NGS	S	Syndro
Spondyloarthropathy, susceptibility to, 1,	SPDA1, Bechterew syndrome	106300	HLA-B27		142830	SEQ	S	Meta
Spondylocostal dysostosis 2, autosomal recessive	SCDO2	608681	MESP2		605195	SEQ, NGS	S	Tissue
Spondylocostal dysostosis-1, autosomal recessive	SCDO1	277300	DLL3		602768	SEQ, NGS	S	Tissue
Spondyloepiphyseal dysplasia congenita	SEDC	183900	COL2A1		120140	SEQ, MLPA, NGS	S	Tissue
Spondyloepiphyseal dysplasia tarda, x-linked	SEDT	313400	TRAPPC2		300202	SEQ, NGS	S	Tissue
Spondyloepiphyseal dysplasia, maroteaux type	SED, pseudo-Morquio syndrome, type 2	184095	TRPV4		605427	SEQ, NGS	S	Tissue
Spondylometaphyseal dysplasia, Kozlowski type		184252	TRPV4		605427	SEQ, NGS	S	Tissue
Stargardt disease type 1	STGD1	248200	ABCA4		601691	SEQ, MLPA, NGS	S	Sensory
Stickler syndrome type 2, autosomal dominant	STL2	604841	COL11A1		120280	SEQ, MLPA, NGS	S	Tissue
Stickler syndrome type 3, autosomal dominant	STL3	184840	COL11A2		120290	SEQ, NGS	S	Tissue
Stickler syndrome type 5, autosomal recessive	STL5	614284	COL9A2		120260	SEQ, NGS	S	Tissue
Stickler syndrome type I, autosomal dominant	STL1	108300	COL2A1		120140	SEQ, MLPA, NGS	S	Tissue
Subcortical laminar heterotopia	SCLH	607432	PAFAH1B1	LIS1	601545	SEQ, MLPA, NGS	S	Syndro
Subcortical laminar heterotopia, X-linked	SCLH	300067	DCX		300121	SEQ, MLPA, NGS	S	Syndro
Subtelomeric screening (analysis of all subtelomeric regions by MLPA)						MLPA	S	Micro
Syndactyly type V	Syndactyly with metacarpal and metatarsal fusion	186300	HOXD13		142989	SEQ, MLPA, NGS	S	Tissue
Synpolydactyly type I	SPD1, syndactyly type II according to Temtamy and McKusick [PMID: 215242]	186000	HOXD13		142989	SEQ, MLPA, NGS	S	Tissue
Synpolydactyly with anomalies of the foot		186000	HOXD13		142989	SEQ, MLPA, NGS	S	Tissue
Tay-Sachs disease		272800	HEXA		606869	SEQ, MLPA, NGS	T	Meta
Telangiectasia, hereditary hemorrhagic, type 1	HHT1, Osler-Rendu-Weber disease type 1	187300	ENG		131195	SEQ, MLPA, NGS	T	Tissue
Telangiectasia, hereditary hemorrhagic, type 2	HHT2, Osler-Rendu-Weber disease type 2	600376	ACVRL1		601284	SEQ, MLPA, NGS	T	Tissue
Telangiectasia, hereditary hemorrhagic, type 5	HHT5	615506	GDF2		605120	SEQ, NGS	T	Tissue
Temtamy syndrome	TEMTYS	218340	C12orf57		615140	SEQ, NGS	T	Syndro
Thalassemia, beta	beta hemoglobinopathy	613985	HBB		141900	SEQ, MLPA, NGS	T	Coagul
Thanatophoric dysplasia type I	TD1	187600	FGFR3		134934	SEQ, MLPA, NGS	T	Tissue
Thanatophoric dysplasia type II	TD2	187601	FGFR3		134934	SEQ, MLPA, NGS	T	Tissue
Thoracic aortic aneurysm type 3	AAT3, FAA3	610168	TGFBR2		190182	SEQ, MLPA, NGS	T	Tissue
Thoracic aortic aneurysm type 4	AAT4, FAA4	132900	MYH11		160745	SEQ, MLPA, NGS	T	Tissue
Thoracic aortic aneurysm type 5	AAT5	609192	TGFBR1		190181	SEQ, MLPA, NGS	T	Tissue
Thoracic aortic aneurysm type 6	AAT6, FAA6	611788	ACTA2		102620	SEQ, NGS	T	Tissue
Thoracic aortic aneurysm type 7	AAT7	613780	MYLK		600922	SEQ, NGS	T	Tissue
Thoracic aortic aneurysm type 8	AAT8	615436	PRKG1		176894	SEQ, NGS	T	Tissue
Thoracic aortic aneurysm type 9	AAT9	616166	MFAP5		601103	SEQ, NGS	T	Tissue
Thrombophilia due to antithrombin III deficiency	AT3D	613118	SERPINC1		107300	SEQ, MLPA, NGS	T	Coagul
Thyroid dyshormonogenesis type 2A		274500	TPO		606765	SEQ, MLPA, NGS	T	Meta
Thyroid hormone resistance, generalized, autosomal dominant	GRTH	188570	THRB		190160	SEQ, NGS	T	Meta
Thyroid hormone resistance, generalized, autosomal recessive	GRTH, Refetoff syndrome	274300	THRB		190160	SEQ, NGS	T	Meta
Thyroid hormone resistance, selective pituitary	PRTH	145650	THRB		190160	SEQ, NGS	T	Meta
Thyrotoxic periodic paralysis type 1	TTPP1	188580	CACNA1S		114208	SEQ, MLPA, NGS	T	Neuro
Thyrotoxic periodic paralysis type 2	TTPP2	613239	KCNJ18		613236	SEQ, NGS	T	Neuro
Tietz albinism-deafness syndrome		103500	MITF		156845	SEQ, MLPA, NGS	T	Syndro
Timothy syndrome	TS, Long QT syndrome with syndactyly	601005	CACNA1C		114205	SEQ, NGS	T	Cardio
Tooth agenesis, selective, 3	STHAG3	604625	PAX9		167416	SEQ, NGS	T	Syndro
Tooth agenesis-4 with or without ectodermal dysplasia	STHAG4, absence of lateral incisors	150400	WNT10A		606268	SEQ, MLPA, NGS	T	Syndro
Torsion dystonia type 1	DYT1	128100	TOR1A		605204	SEQ, MLPA, NGS	T	Neuro
Torsion dystonia type 6	DYT6	602629	THAP1		609520	SEQ, MLPA, NGS	T	Neuro
Townes-Brocks syndrome	TBS	107480	SALL1		602218	SEQ, MLPA, NGS	T	Syndro
Transcobalamin II deficiency		275350	TCN2		613441	SEQ, NGS	T	Meta
Treacher-Collins-Franceschetti syndrome		154500	TCOF1		606847	SEQ, MLPA, NGS	T	Syndro
Treacher-Collins-Franceschetti syndrome type 2		613717	POLR1D		613715	SEQ, NGS	T	Syndro
Treacher-Collins-Franceschetti syndrome type 3, autosomal recessive		248390	POLR1C		610060	SEQ, NGS	T	Syndro
Tremor, hereditary essential type 4	ETM4	614782	FUS		137070	SEQ, NGS	T	Neuro
Trichorhinophalangeal syndrome, type I		190350	TRPS1		604386	SEQ, MLPA, NGS	T	Tissue
Trichorhinophalangeal syndrome, type III		190351	TRPS1		604386	SEQ, MLPA, NGS	T	Tissue
Trichothiodystrophy, photosensitive	TTDP	601675	ERCC2		126340	SEQ, NGS	T	Geno
Tuberous sclerosis 1	TSC1	191100	TSC1		605284	SEQ, MLPA, NGS	T	Tumor
Tuberous sclerosis 2	TSC2	613254	TSC2		191092	SEQ, MLPA, NGS	T	Tumor
UV-sensitive syndrome type 2	UVSS2	614621	ERCC8		609412	SEQ, NGS	U	Syndro
Van der Woude syndrome type 1	VWS1	119300	IRF6		607199	SEQ, MLPA, NGS	V	Syndro
Van der Woude syndrome type 2	VWS2	606713	GRHL3		608317	SEQ, MLPA, NGS	V	Syndro
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations	RVCLS, cerebroretinal vasculopathy, hereditary, CRV	192315	TREX1		606609	SEQ, MLPA, NGS	V	Syndro
Velocardiofacial syndrome		192430	del22q11.2			MLPA	V	Micro
Vitelliform macular dystrophy, type 3	VMD3	608161	PRPH2		179605	SEQ, MLPA, NGS	V	Sensory
Vitreoretinochoroidopathy	VRCP	193220	BEST1		607854	SEQ, MLPA, NGS	V	Sensory
Von Hippel-Lindau syndrome	VHL	193300	VHL		608537	SEQ, MLPA, NGS	V	Kidney
Von Hippel-Lindau syndrome	VHL	193300	VHL		608537	SEQ, MLPA, NGS	V	Tumor
Waardenburg syndrome type 1	WS1	193500	PAX3		606597	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome type 2A	WS2A	193510	MITF		156845	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome type 2E	WS2E	611584	SOX10		602229	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome, type 2D	WS2D	608890	SNAI2		602150	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome, type 3	WS3, Klein-Waardenburg-Syndrom	148820	PAX3		606597	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome, type 4A	WS4A	277580	EDNRB		131244	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome, type 4B	WS4B	613265	EDN3		131242	SEQ, MLPA, NGS	W	Syndro
Waardenburg syndrome, type 4C	WS4C	613266	SOX10		602229	SEQ, MLPA, NGS	W	Syndro
Waardenburg-Shah syndrome, PCWH syndrome		609136	SOX10		602229	SEQ, MLPA, NGS	W	Syndro
Weaver syndrome	Weaver-Smith syndrome	277590	EZH2		601573	SEQ, NGS	W	Syndro
Werner syndrome		277700	WRN	RECQL2	604611	SEQ, NGS	W	Syndro
Werner syndrome, atypical			LMNA		150330	SEQ, MLPA, NGS	W	Syndro
Williams-Beuren syndrome		194050	del7q11.23			MLPA	W	Micro
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	WAGR syndrome, chromosome 11p13 deletion syndrome	194072	del11p13 (PAX6, WT1 genes)		607108, 607102	MLPA	W	Micro
Wilson disease		277900	ATP7B		606882	SEQ, MLPA, NGS	W	Meta
Witkop syndrome	Nail dysplasia with hypodontia	189500	MSX1		142983	SEQ, NGS	W	Syndro
Xeroderma pigmentosum, group D	XPG	278730	ERCC2		126340	SEQ, NGS	X	Geno
Xeroderma pigmentosum, group G	XPG	278780	ERCC5		133530	SEQ, NGS	X	Geno
X-linked mental retardation with dystonia, ataxia and seizures	Partington syndrome	309510	ARX		300382	SEQ, MLPA, NGS	X	Epi
X-linked reducing body myopathy-1 with infantile or early childhood onset	RBMX1A	300717	FHL1		300163	SEQ, NGS	X	Neuro
X-linked reducing body myopathy-1 with late childhood or adult onset	RBMX1B	300718	FHL1		300163	SEQ, NGS	X	Neuro
2q32-q33-Microdeletion syndrome	Glass syndrome	612313	SATB2		608148	MLPA	2	Micro
3-hydroxyacyl-CoA dehydrogenase deficiency	HADH Deficiency	231530	HADH		601609	SEQ, NGS	3	Meta
46XY sex reversal type 1	SRXY1, gonadal dysgenesis, true hermaphroditism	400044	SRY		480000	SEQ, MLPA, NGS	4	Syndro
46XY sex reversal type 3	SRXY3, gonadal dysgenesis	612965	NR5A1		184757	SEQ, MLPA, NGS	4	Syndro
5-fluorouracil toxicity		274270	DPYD, exons 11, 13, 14 and 22		612779	SEQ	5	Pharma

MEWIGEN gene list

Please find our complete genetic analysis service list below

Gene list

Search by:

Home

Service

Contact / Request

About